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Disease

Detail Data SLC2A2


Basic description
Gene Name SLC2A2
Protein Name Solute carrier family 2, facilitated glucose transporter member 2 (Glucose transporter type 2, liver) (GLUT-2)
Family SLC2
Category Cellular hexose transport
Reaction name -
Reaction -

Network
Structure


[Overview]
Position 1 0 2 0 3 0 4 0 5 0 6 0 7 0 8 0 9 0 1 0 0 1 1 0 1 2 0 1 3 0 1 4 0 1 5 0 1 6 0 1 7 0 1 8 0 1 9 0 2 0 0 2 1 0 2 2 0 2 3 0 2 4 0 2 5 0 2 6 0 2 7 0 2 8 0 2 9 0 3 0 0 3 1 0 3 2 0 3 3 0 3 4 0 3 5 0 3 6 0 3 7 0 3 8 0 3 9 0 4 0 0 4 1 0 4 2 0 4 3 0 4 4 0 4 5 0 4 6 0 4 7 0 4 8 0 4 9 0 5 0 0 5 1 0 5 2 0 AA Pred 
        10         20         30         40         50         60         70         80         90        100        110        120        130        140        150        160        170        180        190        200        210        220        230        240        250        260        270        280        290        300        310        320        330        340        350        360        370        380        390        400        410        420        430        440        450        460        470        480        490        500        510        520 
MTEDKVTGTL VFTVITAVLG SFQFGYDIGV INAPQQVIIS HYRHVLGVPL DDRKAINNYV INSTDELPTI SYSMNPKPTP WAEEETVAAA QLITMLWSLS VSSFAVGGMT ASFFGGWLGD TLGRIKAMLV ANILSLVGAL LMGFSKLGPS HILIIAGRSI SGLYCGLISG LVPMYIGEIA PTALRGALGT FHQLAIVTGI LISQIIGLEF ILGNYDLWHI LLGLSGVRAI LQSLLLFFCP ESPRYLYIKL DEEVKAKQSL KRLRGYDDVT KDINEMRKER EEASSEQKVS IIQLFTNSSY RQPILVALML HVAQQFSGIN GIFYYSTSIF QTAGISKPVY ATIGVGAVNM VFTAVSVFLV EKAGRRSLFL IGMSGMFVCA IFMSVGLVLL NKFSWMSYVS MIAIFLFVSF FEIGPGPIPW FMVAEFFSQG PRPAALAIAA FSNWTCNFIV ALCFQYIADF CGPYVFFLFA GVLLAFTLFT FFKVPETKGK SFEEIAAEFQ KKSGSAHRPK AAVEMKFLGA TETV 
CCCCCCCHHH HHHHHHHHHH HHHCCCCEEE ECCHHHHHHH CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCHHCHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHCHHHHHHH HHHHHHHHHH HHHHHCCCCC HHHHHHHHHH HHHHHHHHHH HHHHHHHHHC CHHHHHHHHH HHHHHHHHHH HHHHHHCHHH HHCCCCHHHH HHHHHHHHHH HHHHHHHHCC CCHHHHHHHC CCHHHHHHHH HHHHCCCCHH HHHHHHHHHH HHHHCCCCCC HHHHHCCCCH HHHHHHHHHH HHHHHHHCHH HHHHCCHHHH HHCCCCHHHH HHHHHHHHHH HHHHHHHHHH HHHCHHHHHH HHHHHHHHHH HHHHHHHHHC CCCCHHHHHH HHHHHHHHHH HHCCCCCHHH HHHHHHCCCC CHHHHHHHHH HHHHHHHHHH HHHHHHHHHH CCCHHHHHHH HHHHHHHHHH HHHCHHCCCC CHHHHHHHHH HHCCCCCCCH HHHHHHHCCC CCCC
[Overview] SLC2A1 SLC2A10 SLC2A11 SLC2A12 SLC2A13 SLC2A14 SLC2A2 SLC2A3 SLC2A4 SLC2A5 SLC2A6 SLC2A7 SLC2A8 SLC2A9 
SLC2A1    -------------------------------------------------------------------------------MEPSSKKLTGRLMLAVGG-AVLGS-LQFGYNTGVINAPQKVI--------------EEFYNQTWVHRYG----ESILPTT----------------------LTTLW-SLSVAIFSVGGMIGSFSVGLFVNRFGRRNSMLMMNLLAFVSAVLMGFSKLGKSFEMLILGRFIIGVYCGLTTGFVPMYVGEVSPTALRGALGTLHQLGIVVGILIAQVFGLDSIMGNKDLWPLLLSIIFIPALLQCIVLPFCPES-------PRFLLINRNEENRAKSV-LKKLRGTA-DVTHDLQEMK-----EESRQMMREKKVTILELFRSP-AYRQPILIAVVLQLSQQLSGINAVFYYSTSIFEKAGV-----QQPVYATIGSGIVNTAFTVVSLFVVERAGRRTLHLIGLAGMAGCAILMT-IALALLEQLP--------------------------------------------------------------------------------------------------------------------------WMSYLSIVAIFGFVAFFEVGPGPIPWFIVAELFSQGPRPAAIAVAGFSNWTSNFIVGMCFQYVEQLCGPY----VFIIFTVLLVLFFIFTYFKVPETKGRTFDEIASGF---RQGGAS-------------------QSDKTPEELF-----HPLGADSQV---------
SLC2A10   ----------------------------------MGHSPPVLPL-----CASVS-------------------------------------LL--------GG-LTFGYELAVISGALLPLQLDF-------------------------------------------------------GLSCLEQEFLVGSLLLGALLASLVGGFLIDCYGRKQAILGSNLVLLAGSLTLG---LAGSLAWLVLGRAVVGFAISLSSMACCIYVSELVGPRQRGVLVSLYEAGITVGILLSYALNYAL-AGTPWGWRHMFGWATAPAVLQSLSLLFLPAGTDETATHKDLI-PLQG--GEAPKLGPGRPR------------------------------YSFLDLFRARDNMRGRTTVGLGLVLFQQLTGQPNVLCYASTIFSSVGF--HGGSSAVLASVGLGAVKVAATLTAMGLVDRAGRRALLLAGCALMALSVSGIGLVSFAVPMD---------------------SGPSCLAVPNATGQTGL---------PGDSGLLQDSSLPPIPRTNEDQR-----EPILSTAKKTKPHPRSGDPSAP-------PRLALSSALPGPPLPARGHALLRWTALLCLMVFVSAFSFGFGPVTWLVLSEIYPVEIRGRAFAFCNSFNWAANLFISLSFLDLIGTIGLSW---TFLLYGLTAVLGLGFIYLFVPETKGQSLAEIDQQFQ-KRRFTLS----FGHRQNS-------------------------TGIPYSRIEISAAS--
SLC2A11   --MEDELEPS---------------------------------------------------------------------LRPRTQIQGRILLLTICA-AGIGGTFQFGYNLSIINAPTLHI--------------QEFTNETWQARTG--------------------------EPLPDHLVLLMW-SLIVSLYPLGGLFGALLAGPLAITLGRKKSLLVNNIFVVSAAILFGFSRKAGSFEMIMLGRLLVGVNAGVSMNIQPMYLGESAPKELRGAVAMSSAIFTALGIVMGQVVGLRELLGGPQAWPLLLASCLVPGALQLASLPLLPES-------PRYLLIDCGDTEACLAA-LRRLRGSG-DLAGELEELE-----EERAACQGCRARRPWELFQHR-ALRRQVTSLVVLGSAMELCGNDSVYAYASSVFRKAGV--P-EAKIQYAIIGTGSCELLTAVVSCVVIERVGRRVLLIGGYSLMTCWGSIFT-VALCLQSSFP--------------------------------------------------------------------------------------------------------------------------WTLYLAMACIFAFILSFGIGPAGVTGILATELFDQMARPAACMVCGALMWIMLILVGLGFPFIMEALSHF----LYVPFLGVCVCGAIYTGLFLPETKGKTFQEISKELH-RLN-----------------------------------FPRRAQGPTWRSLEVIQSTEL
SLC2A12   --MVPVENTEGP-------SLLNQKGTAVETEGSGSRHPPWARG-----CGMFT-------------------------------------FLSSVT-AAVSG-LLVGYELGIISGALLQIKTLL-------------------------------------------------------ALSCHEQEMVVSSLVIGALLASLTGGVLIDRYGRRTAIILSSCLLGLGSLVLI---LSLSYTVLIVGRIAIGVSISLSSIATCVYIAEIAPQHRRGLLVSLNELMIVIGILSAYISNYAF-ANVFHGWKYMFGLVIPLGVLQAIAMYFLPPS-------PRFL-VMKGQEGAASKV-LGRLRALS-DTTEELTVIK--------SSLKDEYQYSFWDLFRSKDNMRTRIMIGLTLVFFVQITGQPNILFYASTVLKSVGF--QSNEAASLASTGVGVVKVISTIPATLLVDHVGSKTFLCIGSSVMAASLVTMGIVNLNIHMNFT-HICRSHNSINQSLDESVIYGPGNLSTNNNTLRDHF---------KGISS-HSRSSLMPL-RNDVDKRGETTSASLLNAGLSHTEYQIVTDPGDV-------P------------------AFLKWLSLASLLVYVAAFSIGLGPMPWLVLSEIFPGGIRGRAMALTSSMNWGINLLISLTFLTVTDLIGLPW---VCFIYTIMSLASLLFVVMFIPETKGCSLEQISMELA-KVNYVKNNICFMSHHQEELVPKQPQKRKPQEQLLEC----NKLCGRGQSR-QLSPET--
SLC2A13   --MSRKASENVEYTLRSLSSLMG------ER---RRKQPEPDAASAAGECSLLAAAESSTSLQSAGAGGGGVGDLERAARRQFQQDETPAFVYVVAVFSALGG-FLFGYDTGVVSGAMLLL-------------KRQL------------------------------------------SLDALWQELLVSSTVGAAAVSALAGGALNGVFGRRAAILLASALFTAGSAVLA---AANNKETLLAGRLVVGLGIGIASMTVPVYIAEVSPPNLRGRLVTINTLFITGGQFFASVVDGAFSYLQKDGWRYMLGLAAVPAVIQFFGFLFLPES-------PRWL-IQKGQTQKARRI-LSQMRGNQ-TIDEEYDSIKNN--IEEEEKEVGSAGPVICRMLSYP-PTRRALIVGCGLQMFQQLSGINTIMYYSATILQMSGV--EDDRLAIWLASVTAFTNFIFTLVGVWLVEKVGRRKLTFGSLAGTTVALIILA-LGFVLSAQVSPRI---------TFKPIAPSGQNATCTRYSYCNECMLDPDCGFCYKMNKSTVIDSSCVPV-----------NKASTNEAAWGRCENETKFKTEDIFWAYNFCP------------------TPYSWTALLGLILYLVFFAPGMGPMPWTVNSEIYPLWARSTGNACSSGINWIFNVLVSLTFLHTAEYLTYYG---AFFLYAGFAAVGLLFIYGCLPETKGKKLEEIESLFD-NRLCTCG-------------------TSDSDEGRYIEYI--RVKGSNYHLSDNDASDVE
SLC2A14   --MEFHNGGHVSGIGGFLVSLTS------R-------------------------------------------------MKPHTLAVTPALIFAITV-ATIGS-FQFGYNTGVINAPETII--------------KEFINKTLTDK------ANAPPSEV--------------------LLTNLW-SLSVAIFSVGGMIGSFSVGLFVNRFGRRNSMLIVNLLAATGGCLMGLCKIAESVEMLILGRLVIGLFCGLCTGFVPMYIGEISPTALRGAFGTLNQLGIVIGILVAQIFGLELILGSEELWPVLLGFTILPAILQSAALPCCPES-------PRFLLINRKKEENATRI-LQRLWGTQ-DVSQDIQEMK-----DESARMSQEKQVTVLELFRVS-SYRQPIIISIVLQLSQQLSGINAVFYYSTGIFKDAGV-----QQPIYATISAGVVNTIFTLLSLFLVERAGRRTLHMIGLGGMAFCSTLMT-VSLLLKNHYN--------------------------------------------------------------------------------------------------------------------------GMSFVCIGAILVFVACFEIGPGPIPWFIVAELFSQGPRPAAMAVAGCSNWTSNFLVGLLFPSAAYYLGAY----VFIIFTGFLITFLAFTFFKVPETRGRTFEDITRAFE-GQAHGAD-------------------RSGKDGVMGM-----NSIEPAKETTTNV-----
SLC2A2    ---------------------------------------------------------------------------------MTEDKVTGTLVFTVIT-AVLGS-FQFGYDIGVINAPQQVIISHYRHVLGVPLDDRKAINNYVINS------TDELPTISYSMNPKPTPWAEEETVAAAQLITMLW-SLSVSSFAVGGMTASFFGGWLGDTLGRIKAMLVANILSLVGALLMGFSKLGPSHILIIAGRSISGLYCGLISGLVPMYIGEIAPTALRGALGTFHQLAIVTGILISQIIGLEFILGNYDLWHILLGLSGVRAILQSLLLFFCPES-------PRYLYIKLDEEVKAKQS-LKRLRGYD-DVTKDINEMR-----KEREEASSEQKVSIIQLFTNS-SYRQPILVALMLHVAQQFSGINGIFYYSTSIFQTAGI-----SKPVYATIGVGAVNMVFTAVSVFLVEKAGRRSLFLIGMSGMFVCAIFMS-VGLVLLNKFS--------------------------------------------------------------------------------------------------------------------------WMSYVSMIAIFLFVSFFEIGPGPIPWFMVAEFFSQGPRPAALAIAAFSNWTCNFIVALCFQYIADFCGPY----VFFLFAGVLLAFTLFTFFKVPETKGKSFEEIAAEFQ-KKSGSAH-------------------RP--KAAVEM-----KFLGATETV---------
SLC2A3    -------------MG--------------------------------------------------------------------TQKVTPALIFAITV-ATIGS-FQFGYNTGVINAPEKII--------------KEFINKTLTDK------GNAPPSEV--------------------LLTSLW-SLSVAIFSVGGMIGSFSVGLFVNRFGRRNSMLIVNLLAVTGGCFMGLCKVAKSVEMLILGRLVIGLFCGLCTGFVPMYIGEISPTALRGAFGTLNQLGIVVGILVAQIFGLEFILGSEELWPLLLGFTILPAILQSAALPFCPES-------PRFLLINRKEEENAKQI-LQRLWGTQ-DVSQDIQEMK-----DESARMSQEKQVTVLELFRVS-SYRQPIIISIVLQLSQQLSGINAVFYYSTGIFKDAGV-----QEPIYATIGAGVVNTIFTVVSLFLVERAGRRTLHMIGLGGMAFCSTLMT-VSLLLKDNYN--------------------------------------------------------------------------------------------------------------------------GMSFVCIGAILVFVAFFEIGPGPIPWFIVAELFSQGPRPAAMAVAGCSNWTSNFLVGLLFPSAAHYLGAY----VFIIFTGFLITFLAFTFFKVPETRGRTFEDITRAFE-GQAHGAD-------------------RSGKDGVMEM-----NSIEPAKETTTNV-----
SLC2A4    MPSGFQQ------IG------SE------D-------------------------------------------------GEPPQQRVTGTLVLAVFS-AVLGS-LQFGYNIGVINAPQKVI--------------EQSYNETWLGRQGPEGPSSIPPGT----------------------LTTLW-ALSVAIFSVGGMISSFLIGIISQWLGRKRAMLVNNVLAVLGGSLMGLANAAASYEMLILGRFLIGAYSGLTSGLVPMYVGEIAPTHLRGALGTLNQLAIVIGILIAQVLGLESLLGTASLWPLLLGLTVLPALLQLVLLPFCPES-------PRYLYIIQNLEGPARKS-LKRLTGWA-DVSGVLAELK-----DEKRKLERERPLSLLQLLGSR-THRQPLIIAVVLQLSQQLSGINAVFYYSTSIFETAGV-----GQPAYATIGAGVVNTVFTLVSVLLVERAGRRTLHLLGLAGMCGCAILMT-VALLLLERVP--------------------------------------------------------------------------------------------------------------------------AMSYVSIVAIFGFVAFFEIGPGPIPWFIVAELFSQGPRPAAMAVAGFSNWTSNFIIGMGFQYVAEAMGPY----VFLLFAVLLLGFFIFTFLRVPETRGRTFDQISAAFH--RTPSLL-------------------EQEVKPSTEL-----EYLGPDEND---------
SLC2A5    --MEQQDQSM------------------------------------------------------------------------KEGRLTLVLALATLI-AAFGSSFQYGYNVAAVNSPALLM--------------QQFYNETYYGRTG--------------------------EFMEDFPLTLLW-SVTVSMFPFGGFIGSLLVGPLVNKFGRKGALLFNNIFSIVPAILMGCSRVATSFELIIISRLLVGICAGVSSNVVPMYLGELAPKNLRGALGVVPQLFITVGILVAQIFGLRNLLANVDGWPILLGLTGVPAALQLLLLPFFPES-------PRYLLIQKKDEAAAKKA-LQTLRGWD-SVDREVAEIR-----QEDEAEKAAGFISVLKLFRMR-SLRWQLLSIIVLMGGQQLSGVNAIYYYADQIYLSAGV--P-EEHVQYVTAGTGAVNVVMTFCAVFVVELLGRRLLLLLGFSICLIACCVLT-AALALQDTVS--------------------------------------------------------------------------------------------------------------------------WMPYISIVCVISYVIGHALGPSPIPALLITEIFLQSSRPSAFMVGGSVHWLSNFTVGLIFPFIQEGLGPY----SFIVFAVICLLTTIYIFLIVPETKAKTFIEINQIFT-KMNKVSE-------------------VYPEKEELKE--------LPPVTSEQ-------
SLC2A6    ---------MQE-------PLLGAEGPDYDT---FPEKPPPSPG----------------------------------DRARVGTLQNKRVFLATFA-AVLGN-FSFGYALVYTSPVIPAL-------------ERSLDPDLHLTKSQA--------------------------------------SWFGSVFTLGAAAGGLSAMILNDLLGRKLSIMFSAVPSAAGYALMA---GAHGLWMLLLGRTLTGFAGGLTAACIPVYVSEIAPPGVRGALGATPQLMAVFGSLSLYALGLLL------PWRWLAVAGEAPVLIMILLLSFMPNS-------PRFL-LSRGRDEEALRA-LAWLRGTDVDVHWEFEQIQDNVRRQSSRVS--------WAEARAP-HVCRPITVALLMRLLQQLTGITPILVYLQSIFDSTAVLLP-PKDD---AAIVGAVRLLSVLIAALTMDLAGRKVLLFVSAAIMFAANLTLG-LYIHF---GP-----------------RPLSPNSTAGLESE--------SWG-----------------------------DLAQPLAAPAG----------------------------------------YLTLVPLLATMLFIMGYAVGWGPITWLLMSEVLPLRARGVASGLCVLASWLTAFVLTKSF---LPVVSTFGLQVPFFFFAAICLVSLVFTGCCVPETKGRSLEQIESFFRTGRRSFLR----------------------------------------------------
SLC2A7    --MENKEAGTP---------------------------P-PIP--------------------------------------SREGRLQPTLLLATLS-AAFGSAFQYGYNLSVVNTPHKVF--------------KSFYNETYFERHA--------------------------TFMDGKLMLLLW-SCTVSMFPLGGLLGSLLVGLLVDSCGRKGTLLINNIFAIIPAILMGVSKVAKAFELIVFSRVVLGVCAGISYSALPMYLGELAPKNLRGMVGTMTEVFVIVGVFLAQIFSLQAILGNPAGWPVLLALTGVPALLQLLTLPFFPES-------PRYSLIQKGDEATARQA-LRRLRGHT-DMEAELEDMR-----AEARAERAEGHLSVLHLCALR-SLRWQLLSIIVLMAGQQLSGINAINYYADTIYTSAGV--E-AAHSQYVTVGSGVVNIVMTITSAVLVERLGRRHLLLAGYGICGSACLVLT-VVLLFQNRVP--------------------------------------------------------------------------------------------------------------------------ELSYLGIICVFAYIAGHSIGPSPVPSVVRTEIFLQSSRRAAFMVDGAVHWLTNFIIGFLFPSIQEAIGAY----SFIIFAGICLLTAIYIYVVIPETKGKTFVEINRIFA-KRNRVKL-------------------PEEKEETIDA--------GPPTASPAKETSF--
SLC2A8    --MTPEDPEETQ-------PLLG---------------PPGGSA----------------------------------PRGR-------RVFLAAFA-AALGP-LSFGFALGYSSPAIPSL-------------QRAAPPAPRLDDAAA--------------------------------------SWFGAVVTLGAAAGGVLGGWLVDRAGRKLSLLLCSVPFVAGFAVIT---AAQDVWMLLGGRLLTGLACGVASLVAPVYISEIAYPAVRGLLGSCVQLMVVVGILLAYLAGWVL------EWRWLAVLGCVPPSLMLLLMCFMPET-------PRFL-LTQHRRQEAMAA-LRFLWGSEQG--WE-----DPPIGAEQSFH--------LALLRQP-GIYKPFIIGVSLMAFQQLSGVNAVMFYAETIFEEAKF-----KDSSLASVVVGVIQVLFTAVAALIMDRAGRRLLLVLSGVVMVFSTSAFG-AYFKLTQGGP-----------------GNSSHVAISAPVS-------------------------------------------AQPVDASVG-----------------------------------------LAWLAVGSMCLFIAGFAVGWGPIPWLLMSEIFPLHVKGVATGICVLTNWLMAFLVTKEFSSLMEVLRPYG---AFWLASAFCIFSVLFTLFCVPETKGKTLEQITAHFE-GR---------------------------------------------------------
SLC2A9    --MARKQNRNSKELG--LVPLTD------DT---SHAGP-PGPGRALLECDHLRS---------------GV------PGGRRRKDWSCSLLVASLA-GAFGSSFLYGYNLSVVNAPTPYI--------------KAFYNESWERRHG--------------------------RPIDPDTLTLLW-SVTVSIFAIGGLVGTLIVKMIGKVLGRKHTLLANNGFAISAALLMACSLQAGAFEMLIVGRFIMGIDGGVALSVLPMYLSEISPKEIRGSLGQVTAIFICIGVFTGQLLGLPELLGKESTWPYLFGVIVVPAVVQLLSLPFLPDS-------PRYLLLEKHNEARAVKA-FQTFLGKA-DVSQEVEEVL-----AESRVQRSIRLVSVLELLRAP-YVRWQVVTVIVTMACYQLCGLNAIWFYTNSIFGKAGI--P-PAKIPYVTLSTGGIETLAAVFSGLVIEHLGRRPLLIGGFGLMGLFFGTLT-ITLTLQDHAP--------------------------------------------------------------------------------------------------------------------------WVPYLSIVGILAIIASFCSGPGGIPFILTGEFFQQSQRPAAFIIAGTVNWLSNFAVGLLFPFIQKSLDTY----CFLVFATICITGAIYLYFVLPETKNRTYAEISQAFS-KRNKA----------------------YPPEEKIDSAVTDGKINGRP------------

Variant
check gene name residue number Reference Amino Acid / Variant Amino Acid minor allele frequency rs number
-- SLC2A2 53 R/Q 0.000680256 rs145210664
-- SLC2A2 68 P/L 0.00382156 rs7637863
-- SLC2A2 83 E/K 0.000453349 rs150851401
-- SLC2A2 101 V/I 0.00157548 rs1800572
-- SLC2A2 110 T/I 0.146505 rs5400
-- SLC2A2 137 V/L 0.000103511 rs144125084
-- SLC2A2 198 T/M 0.000107822 rs149460434
-- SLC2A2 198 T/K 0.000247592 rs149460434
-- SLC2A2 363 A/S 0.00153137 rs76362149
-- SLC2A2 468 L/V 0.00103425 rs140138702
-- SLC2A2 478 L/V 0.00106291 rs5397
-- SLC2A2 519 G/E 0.00197646 rs147959014

Phylogenetic tree

Pathway
Priority Gene Name Reactome (Gene) Reactome (Pathway)
main SLC2A2 SLC2A2 [plasma membrane] Cellular hexose transport
SLC2A2 SLC2A2 [plasma membrane] Regulation of gene expression in beta cells
SLC2A2 SLC2A2 [plasma membrane] Regulation of insulin secretion
SLC2A2 SLC2A2 [plasma membrane] Intestinal hexose absorption

Disease
Gene Name Reactome (Gene) Reactome (Pathway)
SLC2A2 SLC2A2 V423E [plasma membrane] Defective SLC2A2 causes Fanconi-Bickel syndrome (FBS)
SLC2A2 SLC2A2 R301* [plasma membrane] Defective SLC2A2 causes Fanconi-Bickel syndrome (FBS)
SLC2A2 SLC2A2 Q287* [plasma membrane] Defective SLC2A2 causes Fanconi-Bickel syndrome (FBS)
SLC2A2 SLC2A2 L46Wfs*29 [plasma membrane] Defective SLC2A2 causes Fanconi-Bickel syndrome (FBS)
SLC2A2 SLC2A2 R365* [plasma membrane] Defective SLC2A2 causes Fanconi-Bickel syndrome (FBS)
SLC2A2 SLC2A2 L389P [plasma membrane] Defective SLC2A2 causes Fanconi-Bickel syndrome (FBS)
SLC2A2 SLC2A2 P417L [plasma membrane] Defective SLC2A2 causes Fanconi-Bickel syndrome (FBS)