Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID	6513
Gene name	Solute carrier family 2 member 1
Gene symbol	SLC2A1
Synonyms (NCBI Gene)	CSEDYT17DYT18DYT9EIG12GLUTGLUT-1GLUT1GLUT1DSHTLVRPEDSDCHCN
Chromosome	1
Chromosome location	1p34.2
Summary	This gene encodes a major glucose transporter in the mammalian blood-brain barrier. The encoded protein is found primarily in the cell membrane and on the cell surface, where it can also function as a receptor for human T-cell leukemia virus (HTLV) I and

146

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SNP ID	Visualize variation	Clinical significance	Consequence
rs13306758	G>A,T	Likely-pathogenic, benign, likely-benign, risk-factor, pathogenic	Coding sequence variant, synonymous variant, missense variant
rs34025424	C>A,T	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs55693364	C>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs75485205	G>A,T	Likely-benign, benign, pathogenic, benign-likely-benign	Stop gained, coding sequence variant, synonymous variant
rs75852730	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant
rs76672402	G>A,C	Not-provided, uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, coding sequence variant
rs78388808	G>A	Likely-benign, uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs80359812	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs80359814	C>T	Pathogenic	Missense variant, coding sequence variant
rs80359816	C>A,T	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs80359818	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs80359819	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs80359821	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs80359822	TT>AC	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs80359823	G>A	Pathogenic	Missense variant, coding sequence variant
rs80359825	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs80359828	G>T	Pathogenic	Coding sequence variant, stop gained
rs80359829	T>A	Pathogenic	Coding sequence variant, stop gained
rs80359832	GGA>-	Pathogenic	Inframe deletion, coding sequence variant
rs80359837	C>-,CC	Pathogenic	Frameshift variant, coding sequence variant
rs80359838	CA>-	Pathogenic	Frameshift variant, coding sequence variant
rs121909739	C>T	Pathogenic	Missense variant, coding sequence variant
rs121909740	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs139412383	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs139492241	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign	Intron variant
rs139722450	C>A,G	Likely-pathogenic	Missense variant, coding sequence variant
rs140825318	G>A	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant
rs141619735	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs146879902	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs147319894	G>A	Conflicting-interpretations-of-pathogenicity, benign	Synonymous variant, coding sequence variant
rs150971143	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Synonymous variant, coding sequence variant
rs201989024	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs202060209	G>A,T	Pathogenic, uncertain-significance, likely-pathogenic, likely-benign	Missense variant, coding sequence variant, synonymous variant
rs267607059	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs267607060	GA>AT	Pathogenic	Missense variant, coding sequence variant
rs267607061	G>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, synonymous variant
rs369273744	A>G,T	Benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs373084446	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs374080633	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs376653618	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs387907312	G>A	Pathogenic	Coding sequence variant, missense variant
rs387907313	G>A	Pathogenic, risk-factor	Coding sequence variant, missense variant
rs397514564	C>G,T	Risk-factor	Coding sequence variant, missense variant
rs398123069	T>C	Risk-factor	Coding sequence variant, missense variant
rs398124230	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs531385270	G>-	Benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs587784390	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs587784391	C>-	Pathogenic	Stop gained, coding sequence variant
rs587784393	CGTCAGCTTC>-	Pathogenic	Splice acceptor variant, coding sequence variant
rs587784396	G>A	Pathogenic	Stop gained, coding sequence variant
rs587784397	G>A	Pathogenic	Stop gained, coding sequence variant
rs749426767	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs752143706	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs771386274	C>A,T	Likely-pathogenic	Intron variant
rs776095655	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs794727642	C>A,G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs794727870	G>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs794729221	G>A	Pathogenic	Coding sequence variant, stop gained
rs796053247	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs796053248	G>A,T	Pathogenic	Missense variant, coding sequence variant, synonymous variant
rs796053249	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs796053251	T>C	Pathogenic	Missense variant, coding sequence variant
rs796053253	G>A	Pathogenic	Missense variant, coding sequence variant
rs796053254	C>T	Likely-pathogenic	Coding sequence variant, synonymous variant
rs796053255	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs796053263	G>A	Pathogenic	Missense variant, coding sequence variant
rs796053264	A>C,G	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs796053265	G>-	Pathogenic	Intron variant
rs796053266	AAAGATGGCC>G	Pathogenic	Coding sequence variant, inframe deletion
rs796053267	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs796053268	TGCAGCACCACAGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs796053269	ACC>-	Pathogenic	Splice donor variant, coding sequence variant, intron variant
rs796053270	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs796053271	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs796053272	T>C	Pathogenic	Splice acceptor variant
rs864309514	C>T	Pathogenic	Missense variant, coding sequence variant
rs864309522	TGA>-	Pathogenic	Coding sequence variant, inframe deletion
rs869312673	C>G,T	Pathogenic, uncertain-significance	Splice acceptor variant
rs878853161	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs886039517	C>T	Pathogenic	Coding sequence variant, missense variant
rs886039737	ATGGG>-	Pathogenic	Frameshift variant, coding sequence variant
rs886041590	->G	Pathogenic	Frameshift variant, coding sequence variant
rs886041633	A>G	Pathogenic	Coding sequence variant, missense variant
rs886041981	->A	Pathogenic	Frameshift variant, coding sequence variant
rs886044287	CG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057517822	C>G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1057518821	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1057518953	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1057520545	C>T	Pathogenic	Missense variant, coding sequence variant
rs1057521066	G>A	Pathogenic	Stop gained, coding sequence variant
rs1057521632	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057521967	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1064795152	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064795363	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1085308009	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1181822928	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs1259158687	C>A,T	Likely-pathogenic, pathogenic	Intron variant
rs1264369249	->CGGAAGC	Pathogenic	Coding sequence variant, frameshift variant
rs1345986424	C>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, stop gained
rs1387203768	C>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs1413339367	G>A	Pathogenic	Stop gained, coding sequence variant
rs1431778557	T>C,G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1553155843	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1553155885	GCT>TCA	Pathogenic	Coding sequence variant, stop gained
rs1553155887	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553155900	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1553155973	CAACCCGCCA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553155982	T>A	Pathogenic	Coding sequence variant, missense variant
rs1553155986	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1553156002	A>G	Pathogenic	Coding sequence variant, missense variant
rs1553156047	AGACAGCTGCTG>-	Pathogenic	Coding sequence variant, inframe deletion
rs1553156051	G>A	Pathogenic	Coding sequence variant, stop gained
rs1553156053	G>A	Pathogenic	Coding sequence variant, stop gained
rs1553156069	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553156086	C>G	Pathogenic	Splice donor variant
rs1553156146	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1553156154	T>C,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1553156161	GC>AA	Likely-pathogenic	Coding sequence variant, missense variant
rs1553156199	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1557644984	A>G	Pathogenic	Coding sequence variant, missense variant
rs1557645002	C>T	Pathogenic	Stop gained, coding sequence variant
rs1557645723	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1557646075	TCTCGGGGC>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1557646673	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1557646893	->CC	Pathogenic	Splice acceptor variant, coding sequence variant
rs1570590528	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1570590859	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1570590905	->TCC	Likely-pathogenic	Inframe insertion, coding sequence variant
rs1570591031	C>T	Pathogenic	Stop gained, coding sequence variant
rs1570591037	AGCTGCT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1570592604	CTTC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1570592655	->AT	Pathogenic	Frameshift variant, coding sequence variant
rs1570592844	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1570592933	C>T	Pathogenic	Stop gained, coding sequence variant
rs1570593475	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1570593487	TG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1570593595	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1570593621	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1570593665	C>T	Likely-pathogenic	Splice acceptor variant
rs1570593820	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1570593881	GTG>TT	Pathogenic	Frameshift variant, coding sequence variant
rs1570593893	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1570600997	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1570601007	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1570601051	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1570601060	->TGAGGAG	Likely-pathogenic	Coding sequence variant, frameshift variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT045432	hsa-miR-149-5p	CLASH	23622248
MIRT044855	hsa-miR-320a	CLASH	23622248
MIRT042866	hsa-miR-324-3p	CLASH	23622248
MIRT041808	hsa-miR-484	CLASH	23622248
MIRT035848	hsa-miR-1262	CLASH	23622248
MIRT438642	hsa-miR-1291	Luciferase reporter assayqRT-PCRWestern blot	23889809
MIRT438642	hsa-miR-1291	Luciferase reporter assayqRT-PCRWestern blot	23889809
MIRT438642	hsa-miR-1291	Luciferase reporter assayqRT-PCRWestern blot	23889809
MIRT438642	hsa-miR-1291	Luciferase reporter assayqRT-PCRWestern blot	23889809
MIRT438642	hsa-miR-1291	Luciferase reporter assayqRT-PCRWestern blot	23889809
MIRT438642	hsa-miR-1291	Luciferase reporter assayqRT-PCRWestern blot	23889809
MIRT438642	hsa-miR-1291	Luciferase reporter assayqRT-PCRWestern blot	23889809
MIRT438642	hsa-miR-1291	Luciferase reporter assayqRT-PCRWestern blot	23889809
MIRT699417	hsa-miR-22-3p	HITS-CLIP	23313552
MIRT699416	hsa-miR-3184-3p	HITS-CLIP	23313552
MIRT699415	hsa-miR-5586-5p	HITS-CLIP	23313552
MIRT699414	hsa-miR-4267	HITS-CLIP	23313552
MIRT699413	hsa-miR-4324	HITS-CLIP	23313552
MIRT699412	hsa-miR-544b	HITS-CLIP	23313552
MIRT699411	hsa-miR-1914-5p	HITS-CLIP	23313552
MIRT699410	hsa-miR-6870-3p	HITS-CLIP	23313552
MIRT380445	hsa-miR-3653-5p	HITS-CLIP	23313552
MIRT699409	hsa-miR-6761-5p	HITS-CLIP	23313552
MIRT699408	hsa-miR-5008-3p	HITS-CLIP	23313552
MIRT699407	hsa-miR-6737-3p	HITS-CLIP	23313552
MIRT699406	hsa-miR-7157-3p	HITS-CLIP	23313552
MIRT699405	hsa-miR-214-5p	HITS-CLIP	23313552
MIRT699404	hsa-miR-6811-3p	HITS-CLIP	23313552
MIRT699403	hsa-miR-4268	HITS-CLIP	23313552
MIRT699402	hsa-miR-4448	HITS-CLIP	23313552
MIRT699401	hsa-miR-6882-3p	HITS-CLIP	23313552
MIRT699400	hsa-miR-1296-5p	HITS-CLIP	23313552
MIRT699399	hsa-miR-1200	HITS-CLIP	23313552
MIRT699398	hsa-miR-6514-3p	HITS-CLIP	23313552
MIRT699397	hsa-miR-6772-3p	HITS-CLIP	23313552
MIRT699396	hsa-miR-2909	HITS-CLIP	23313552
MIRT501137	hsa-miR-6504-5p	PAR-CLIP	24398324
MIRT501136	hsa-miR-3064-5p	PAR-CLIP	24398324
MIRT501135	hsa-miR-4323	PAR-CLIP	24398324
MIRT501134	hsa-miR-4747-3p	PAR-CLIP	24398324
MIRT501133	hsa-miR-4638-5p	PAR-CLIP	24398324
MIRT501132	hsa-miR-1225-3p	PAR-CLIP	24398324
MIRT501131	hsa-miR-3135b	PAR-CLIP	24398324
MIRT501129	hsa-miR-4434	PAR-CLIP	24398324
MIRT501130	hsa-miR-4516	PAR-CLIP	24398324
MIRT501128	hsa-miR-5703	PAR-CLIP	24398324
MIRT501127	hsa-miR-1538	PAR-CLIP	24398324
MIRT501126	hsa-miR-4745-3p	PAR-CLIP	24398324
MIRT501125	hsa-miR-3652	PAR-CLIP	24398324
MIRT501124	hsa-miR-4430	PAR-CLIP	24398324
MIRT501123	hsa-miR-4505	PAR-CLIP	24398324
MIRT501122	hsa-miR-5787	PAR-CLIP	24398324
MIRT501120	hsa-miR-4531	PAR-CLIP	24398324
MIRT501121	hsa-miR-6842-3p	PAR-CLIP	24398324
MIRT699417	hsa-miR-22-3p	qRT-PCRLuciferase reporter assayIn situ hybridizationWestern blot	25304371
MIRT699417	hsa-miR-22-3p	HITS-CLIP	23313552
MIRT699416	hsa-miR-3184-3p	HITS-CLIP	23313552
MIRT699415	hsa-miR-5586-5p	HITS-CLIP	23313552
MIRT699414	hsa-miR-4267	HITS-CLIP	23313552
MIRT699413	hsa-miR-4324	HITS-CLIP	23313552
MIRT699412	hsa-miR-544b	HITS-CLIP	23313552
MIRT699411	hsa-miR-1914-5p	HITS-CLIP	23313552
MIRT699410	hsa-miR-6870-3p	HITS-CLIP	23313552
MIRT380445	hsa-miR-3653-5p	HITS-CLIP	23313552
MIRT699409	hsa-miR-6761-5p	HITS-CLIP	23313552
MIRT699408	hsa-miR-5008-3p	HITS-CLIP	23313552
MIRT699407	hsa-miR-6737-3p	HITS-CLIP	23313552
MIRT699406	hsa-miR-7157-3p	HITS-CLIP	23313552
MIRT699405	hsa-miR-214-5p	HITS-CLIP	23313552
MIRT699404	hsa-miR-6811-3p	HITS-CLIP	23313552
MIRT699403	hsa-miR-4268	HITS-CLIP	23313552
MIRT699402	hsa-miR-4448	HITS-CLIP	23313552
MIRT699401	hsa-miR-6882-3p	HITS-CLIP	23313552
MIRT699400	hsa-miR-1296-5p	HITS-CLIP	23313552
MIRT699399	hsa-miR-1200	HITS-CLIP	23313552
MIRT699398	hsa-miR-6514-3p	HITS-CLIP	23313552
MIRT699397	hsa-miR-6772-3p	HITS-CLIP	23313552
MIRT699396	hsa-miR-2909	HITS-CLIP	23313552
MIRT501137	hsa-miR-6504-5p	PAR-CLIP	24398324
MIRT501136	hsa-miR-3064-5p	PAR-CLIP	24398324
MIRT501135	hsa-miR-4323	PAR-CLIP	24398324
MIRT501134	hsa-miR-4747-3p	PAR-CLIP	24398324
MIRT501133	hsa-miR-4638-5p	PAR-CLIP	24398324
MIRT501132	hsa-miR-1225-3p	PAR-CLIP	24398324
MIRT501131	hsa-miR-3135b	PAR-CLIP	24398324
MIRT501129	hsa-miR-4434	PAR-CLIP	24398324
MIRT501130	hsa-miR-4516	PAR-CLIP	24398324
MIRT501128	hsa-miR-5703	PAR-CLIP	24398324
MIRT501127	hsa-miR-1538	PAR-CLIP	24398324
MIRT501126	hsa-miR-4745-3p	PAR-CLIP	24398324
MIRT501125	hsa-miR-3652	PAR-CLIP	24398324
MIRT501124	hsa-miR-4430	PAR-CLIP	24398324
MIRT501123	hsa-miR-4505	PAR-CLIP	24398324
MIRT501122	hsa-miR-5787	PAR-CLIP	24398324
MIRT501120	hsa-miR-4531	PAR-CLIP	24398324
MIRT501121	hsa-miR-6842-3p	PAR-CLIP	24398324
MIRT1358591	hsa-miR-103b	CLIP-seq
MIRT1358592	hsa-miR-1197	CLIP-seq
MIRT1358593	hsa-miR-1225-5p	CLIP-seq
MIRT1358594	hsa-miR-1273f	CLIP-seq
MIRT1358595	hsa-miR-1273g	CLIP-seq
MIRT1358596	hsa-miR-1284	CLIP-seq
MIRT1358597	hsa-miR-1294	CLIP-seq
MIRT1358598	hsa-miR-130a	CLIP-seq
MIRT1358599	hsa-miR-130b	CLIP-seq
MIRT1358600	hsa-miR-1343	CLIP-seq
MIRT1358601	hsa-miR-136	CLIP-seq
MIRT1358602	hsa-miR-140-5p	CLIP-seq
MIRT1358603	hsa-miR-148a	CLIP-seq
MIRT1358604	hsa-miR-148b	CLIP-seq
MIRT1358605	hsa-miR-152	CLIP-seq
MIRT1358606	hsa-miR-194	CLIP-seq
MIRT1358607	hsa-miR-1972	CLIP-seq
MIRT1358608	hsa-miR-198	CLIP-seq
MIRT1358609	hsa-miR-19a	CLIP-seq
MIRT1358610	hsa-miR-19b	CLIP-seq
MIRT1358611	hsa-miR-301a	CLIP-seq
MIRT1358612	hsa-miR-301b	CLIP-seq
MIRT1358613	hsa-miR-3117-3p	CLIP-seq
MIRT1358614	hsa-miR-3120-5p	CLIP-seq
MIRT1358615	hsa-miR-3125	CLIP-seq
MIRT1358616	hsa-miR-3132	CLIP-seq
MIRT1358617	hsa-miR-3179	CLIP-seq
MIRT1358618	hsa-miR-3182	CLIP-seq
MIRT1358619	hsa-miR-3187-3p	CLIP-seq
MIRT1358620	hsa-miR-3202	CLIP-seq
MIRT1358621	hsa-miR-326	CLIP-seq
MIRT1358622	hsa-miR-328	CLIP-seq
MIRT1358623	hsa-miR-330-5p	CLIP-seq
MIRT1358624	hsa-miR-331-5p	CLIP-seq
MIRT1358625	hsa-miR-3591-5p	CLIP-seq
MIRT1358626	hsa-miR-3657	CLIP-seq
MIRT1358627	hsa-miR-3666	CLIP-seq
MIRT1358628	hsa-miR-3674	CLIP-seq
MIRT1358629	hsa-miR-376a	CLIP-seq
MIRT1358630	hsa-miR-376b	CLIP-seq
MIRT1358631	hsa-miR-3914	CLIP-seq
MIRT1358632	hsa-miR-3916	CLIP-seq
MIRT1358633	hsa-miR-3928	CLIP-seq
MIRT1358634	hsa-miR-410	CLIP-seq
MIRT1358635	hsa-miR-4294	CLIP-seq
MIRT1358636	hsa-miR-4295	CLIP-seq
MIRT1358637	hsa-miR-4428	CLIP-seq
MIRT1358638	hsa-miR-4433	CLIP-seq
MIRT1358639	hsa-miR-4436b-3p	CLIP-seq
MIRT1358640	hsa-miR-4468	CLIP-seq
MIRT1358641	hsa-miR-4476	CLIP-seq
MIRT1358642	hsa-miR-4481	CLIP-seq
MIRT1358643	hsa-miR-4519	CLIP-seq
MIRT1358644	hsa-miR-4529-5p	CLIP-seq
MIRT1358645	hsa-miR-4530	CLIP-seq
MIRT1358646	hsa-miR-454	CLIP-seq
MIRT1358647	hsa-miR-4645-5p	CLIP-seq
MIRT1358648	hsa-miR-4658	CLIP-seq
MIRT1358649	hsa-miR-4669	CLIP-seq
MIRT1358650	hsa-miR-4673	CLIP-seq
MIRT1358651	hsa-miR-4688	CLIP-seq
MIRT1358652	hsa-miR-4699-3p	CLIP-seq
MIRT1358653	hsa-miR-4703-3p	CLIP-seq
MIRT1358654	hsa-miR-4715-5p	CLIP-seq
MIRT1358655	hsa-miR-4716-5p	CLIP-seq
MIRT1358656	hsa-miR-4722-5p	CLIP-seq
MIRT1358657	hsa-miR-4731-3p	CLIP-seq
MIRT1358658	hsa-miR-4745-5p	CLIP-seq
MIRT1358659	hsa-miR-4747-5p	CLIP-seq
MIRT1358660	hsa-miR-4758-5p	CLIP-seq
MIRT1358661	hsa-miR-4775	CLIP-seq
MIRT1358662	hsa-miR-4778-3p	CLIP-seq
MIRT1358663	hsa-miR-4789-5p	CLIP-seq
MIRT1358664	hsa-miR-4797-5p	CLIP-seq
MIRT1358665	hsa-miR-4801	CLIP-seq
MIRT1358666	hsa-miR-483-3p	CLIP-seq
MIRT1358667	hsa-miR-518a-5p	CLIP-seq
MIRT1358668	hsa-miR-526b	CLIP-seq
MIRT1358669	hsa-miR-527	CLIP-seq
MIRT1358670	hsa-miR-555	CLIP-seq
MIRT1358671	hsa-miR-607	CLIP-seq
MIRT1358672	hsa-miR-648	CLIP-seq
MIRT1358673	hsa-miR-802	CLIP-seq
MIRT1358674	hsa-miR-922	CLIP-seq
MIRT1358591	hsa-miR-103b	CLIP-seq
MIRT1358596	hsa-miR-1284	CLIP-seq
MIRT1358597	hsa-miR-1294	CLIP-seq
MIRT1358600	hsa-miR-1343	CLIP-seq
MIRT1358601	hsa-miR-136	CLIP-seq
MIRT2106214	hsa-miR-186	CLIP-seq
MIRT2106215	hsa-miR-188-3p	CLIP-seq
MIRT1358606	hsa-miR-194	CLIP-seq
MIRT2106216	hsa-miR-3133	CLIP-seq
MIRT2106217	hsa-miR-3155	CLIP-seq
MIRT2106218	hsa-miR-3155b	CLIP-seq
MIRT2106219	hsa-miR-3174	CLIP-seq
MIRT1358619	hsa-miR-3187-3p	CLIP-seq
MIRT1358624	hsa-miR-331-5p	CLIP-seq
MIRT1358628	hsa-miR-3674	CLIP-seq
MIRT1358629	hsa-miR-376a	CLIP-seq
MIRT1358630	hsa-miR-376b	CLIP-seq
MIRT1358634	hsa-miR-410	CLIP-seq
MIRT1358635	hsa-miR-4294	CLIP-seq
MIRT1358638	hsa-miR-4433	CLIP-seq
MIRT1358639	hsa-miR-4436b-3p	CLIP-seq
MIRT1358640	hsa-miR-4468	CLIP-seq
MIRT1358643	hsa-miR-4519	CLIP-seq
MIRT1358644	hsa-miR-4529-5p	CLIP-seq
MIRT1358645	hsa-miR-4530	CLIP-seq
MIRT1358652	hsa-miR-4699-3p	CLIP-seq
MIRT1358653	hsa-miR-4703-3p	CLIP-seq
MIRT1358654	hsa-miR-4715-5p	CLIP-seq
MIRT1358655	hsa-miR-4716-5p	CLIP-seq
MIRT1358656	hsa-miR-4722-5p	CLIP-seq
MIRT1358657	hsa-miR-4731-3p	CLIP-seq
MIRT1358662	hsa-miR-4778-3p	CLIP-seq
MIRT1358663	hsa-miR-4789-5p	CLIP-seq
MIRT1358665	hsa-miR-4801	CLIP-seq
MIRT2106220	hsa-miR-510	CLIP-seq
MIRT1358668	hsa-miR-526b	CLIP-seq
MIRT2106221	hsa-miR-532-3p	CLIP-seq
MIRT2106222	hsa-miR-633	CLIP-seq
MIRT1358672	hsa-miR-648	CLIP-seq
MIRT1358673	hsa-miR-802	CLIP-seq
MIRT1358674	hsa-miR-922	CLIP-seq
MIRT2106223	hsa-miR-942	CLIP-seq
MIRT1358591	hsa-miR-103b	CLIP-seq
MIRT2330519	hsa-miR-1208	CLIP-seq
MIRT1358597	hsa-miR-1294	CLIP-seq
MIRT1358600	hsa-miR-1343	CLIP-seq
MIRT2106215	hsa-miR-188-3p	CLIP-seq
MIRT1358606	hsa-miR-194	CLIP-seq
MIRT1358607	hsa-miR-1972	CLIP-seq
MIRT2330520	hsa-miR-21	CLIP-seq
MIRT2330521	hsa-miR-299-3p	CLIP-seq
MIRT2106217	hsa-miR-3155	CLIP-seq
MIRT2106218	hsa-miR-3155b	CLIP-seq
MIRT2106219	hsa-miR-3174	CLIP-seq
MIRT2330522	hsa-miR-3185	CLIP-seq
MIRT1358619	hsa-miR-3187-3p	CLIP-seq
MIRT1358625	hsa-miR-3591-5p	CLIP-seq
MIRT1358628	hsa-miR-3674	CLIP-seq
MIRT1358629	hsa-miR-376a	CLIP-seq
MIRT1358630	hsa-miR-376b	CLIP-seq
MIRT2330523	hsa-miR-4265	CLIP-seq
MIRT2330524	hsa-miR-4269	CLIP-seq
MIRT2330525	hsa-miR-4296	CLIP-seq
MIRT2330526	hsa-miR-4322	CLIP-seq
MIRT2330527	hsa-miR-4417	CLIP-seq
MIRT2330528	hsa-miR-4420	CLIP-seq
MIRT1358638	hsa-miR-4433	CLIP-seq
MIRT1358640	hsa-miR-4468	CLIP-seq
MIRT2330529	hsa-miR-4474-5p	CLIP-seq
MIRT1358644	hsa-miR-4529-5p	CLIP-seq
MIRT1358645	hsa-miR-4530	CLIP-seq
MIRT1358647	hsa-miR-4645-5p	CLIP-seq
MIRT1358650	hsa-miR-4673	CLIP-seq
MIRT2330530	hsa-miR-4683	CLIP-seq
MIRT1358652	hsa-miR-4699-3p	CLIP-seq
MIRT2330531	hsa-miR-4701-3p	CLIP-seq
MIRT1358653	hsa-miR-4703-3p	CLIP-seq
MIRT1358654	hsa-miR-4715-5p	CLIP-seq
MIRT2330532	hsa-miR-4764-5p	CLIP-seq
MIRT2330533	hsa-miR-4786-3p	CLIP-seq
MIRT2106221	hsa-miR-532-3p	CLIP-seq
MIRT2330534	hsa-miR-590-5p	CLIP-seq
MIRT1358672	hsa-miR-648	CLIP-seq
MIRT2330535	hsa-miR-661	CLIP-seq
MIRT1358673	hsa-miR-802	CLIP-seq
MIRT1358674	hsa-miR-922	CLIP-seq
MIRT1358591	hsa-miR-103b	CLIP-seq
MIRT1358597	hsa-miR-1294	CLIP-seq
MIRT1358600	hsa-miR-1343	CLIP-seq
MIRT1358606	hsa-miR-194	CLIP-seq
MIRT1358628	hsa-miR-3674	CLIP-seq
MIRT1358638	hsa-miR-4433	CLIP-seq
MIRT1358642	hsa-miR-4481	CLIP-seq
MIRT1358653	hsa-miR-4703-3p	CLIP-seq
MIRT1358658	hsa-miR-4745-5p	CLIP-seq
MIRT1358673	hsa-miR-802	CLIP-seq
MIRT1358596	hsa-miR-1284	CLIP-seq
MIRT1358597	hsa-miR-1294	CLIP-seq
MIRT1358606	hsa-miR-194	CLIP-seq
MIRT1358608	hsa-miR-198	CLIP-seq
MIRT1358625	hsa-miR-3591-5p	CLIP-seq
MIRT1358634	hsa-miR-410	CLIP-seq
MIRT1358638	hsa-miR-4433	CLIP-seq
MIRT1358639	hsa-miR-4436b-3p	CLIP-seq
MIRT1358652	hsa-miR-4699-3p	CLIP-seq
MIRT1358654	hsa-miR-4715-5p	CLIP-seq
MIRT1358657	hsa-miR-4731-3p	CLIP-seq
MIRT2433231	hsa-miR-4742-3p	CLIP-seq
MIRT1358663	hsa-miR-4789-5p	CLIP-seq
MIRT1358665	hsa-miR-4801	CLIP-seq
MIRT2433232	hsa-miR-549	CLIP-seq
MIRT1358673	hsa-miR-802	CLIP-seq
MIRT2433233	hsa-miR-889	CLIP-seq
MIRT2330531	hsa-miR-4701-3p	CLIP-seq
MIRT1358591	hsa-miR-103b	CLIP-seq
MIRT2624554	hsa-miR-1266	CLIP-seq
MIRT2624555	hsa-miR-1299	CLIP-seq
MIRT2624556	hsa-miR-150	CLIP-seq
MIRT2624557	hsa-miR-1825	CLIP-seq
MIRT2106214	hsa-miR-186	CLIP-seq
MIRT1358607	hsa-miR-1972	CLIP-seq
MIRT2624558	hsa-miR-199a-5p	CLIP-seq
MIRT2624559	hsa-miR-199b-5p	CLIP-seq
MIRT2106216	hsa-miR-3133	CLIP-seq
MIRT2624560	hsa-miR-3150a-3p	CLIP-seq
MIRT2624561	hsa-miR-3175	CLIP-seq
MIRT1358618	hsa-miR-3182	CLIP-seq
MIRT1358619	hsa-miR-3187-3p	CLIP-seq
MIRT1358622	hsa-miR-328	CLIP-seq
MIRT2624562	hsa-miR-3663-5p	CLIP-seq
MIRT2624563	hsa-miR-3664-3p	CLIP-seq
MIRT2624564	hsa-miR-378	CLIP-seq
MIRT2624565	hsa-miR-378b	CLIP-seq
MIRT2624566	hsa-miR-378c	CLIP-seq
MIRT2624567	hsa-miR-378d	CLIP-seq
MIRT2624568	hsa-miR-378e	CLIP-seq
MIRT2624569	hsa-miR-378f	CLIP-seq
MIRT2624570	hsa-miR-378h	CLIP-seq
MIRT2624571	hsa-miR-378i	CLIP-seq
MIRT2624572	hsa-miR-3913-3p	CLIP-seq
MIRT2624573	hsa-miR-3925-3p	CLIP-seq
MIRT2624574	hsa-miR-422a	CLIP-seq
MIRT2624575	hsa-miR-4279	CLIP-seq
MIRT2624576	hsa-miR-4317	CLIP-seq
MIRT1358642	hsa-miR-4481	CLIP-seq
MIRT2624577	hsa-miR-4518	CLIP-seq
MIRT1358644	hsa-miR-4529-5p	CLIP-seq
MIRT1358645	hsa-miR-4530	CLIP-seq
MIRT2624578	hsa-miR-4638-3p	CLIP-seq
MIRT1358647	hsa-miR-4645-5p	CLIP-seq
MIRT2624579	hsa-miR-4659a-3p	CLIP-seq
MIRT2624580	hsa-miR-4659b-3p	CLIP-seq
MIRT1358650	hsa-miR-4673	CLIP-seq
MIRT2330530	hsa-miR-4683	CLIP-seq
MIRT1358658	hsa-miR-4745-5p	CLIP-seq
MIRT2624581	hsa-miR-4782-5p	CLIP-seq
MIRT2624582	hsa-miR-4793-3p	CLIP-seq
MIRT2624583	hsa-miR-491-5p	CLIP-seq
MIRT2624584	hsa-miR-508-5p	CLIP-seq
MIRT2624585	hsa-miR-516b	CLIP-seq
MIRT2624586	hsa-miR-582-3p	CLIP-seq
MIRT1358674	hsa-miR-922	CLIP-seq
MIRT2624587	hsa-miR-939	CLIP-seq
MIRT2624555	hsa-miR-1299	CLIP-seq
MIRT2624560	hsa-miR-3150a-3p	CLIP-seq
MIRT2624561	hsa-miR-3175	CLIP-seq
MIRT1358618	hsa-miR-3182	CLIP-seq
MIRT2624564	hsa-miR-378	CLIP-seq
MIRT2624565	hsa-miR-378b	CLIP-seq
MIRT2624566	hsa-miR-378c	CLIP-seq
MIRT2624567	hsa-miR-378d	CLIP-seq
MIRT2624568	hsa-miR-378e	CLIP-seq
MIRT2624569	hsa-miR-378f	CLIP-seq
MIRT2624570	hsa-miR-378h	CLIP-seq
MIRT2624571	hsa-miR-378i	CLIP-seq
MIRT2624572	hsa-miR-3913-3p	CLIP-seq
MIRT2624574	hsa-miR-422a	CLIP-seq
MIRT2624576	hsa-miR-4317	CLIP-seq
MIRT1358642	hsa-miR-4481	CLIP-seq
MIRT2624578	hsa-miR-4638-3p	CLIP-seq
MIRT1358647	hsa-miR-4645-5p	CLIP-seq
MIRT2624579	hsa-miR-4659a-3p	CLIP-seq
MIRT2624580	hsa-miR-4659b-3p	CLIP-seq
MIRT1358650	hsa-miR-4673	CLIP-seq
MIRT2330530	hsa-miR-4683	CLIP-seq
MIRT1358658	hsa-miR-4745-5p	CLIP-seq
MIRT2624581	hsa-miR-4782-5p	CLIP-seq
MIRT2624583	hsa-miR-491-5p	CLIP-seq
MIRT2624585	hsa-miR-516b	CLIP-seq
MIRT2624587	hsa-miR-939	CLIP-seq

Show/Hide all (5)

Transcription factor	Regulation	Reference
ATM	Repression	20676049
HDAC5	Activation	22991226
HIF1A	Activation	15525582
HIF1A	Unknown	16025159;17426252;17486380;18097583
TP53	Repression	22483234

Show/Hide all (86)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	TAS
GO:0001666	Process	Response to hypoxia	IEA
GO:0001674	Component	Female germ cell nucleus	IEA
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0001939	Component	Female pronucleus	IEA
GO:0005324	Function	Long-chain fatty acid transmembrane transporter activity	IMP	10227690
GO:0005515	Function	Protein binding	IPI	18347014, 23563491, 25910212, 25957687, 35810171
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	2211693, 18245775, 21791420, 23137377, 25982116, 28112518
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	10227690
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0005901	Component	Caveola	IEA
GO:0005911	Component	Cell-cell junction	IEA
GO:0007417	Process	Central nervous system development	IMP	1714544, 10227690
GO:0007565	Process	Female pregnancy	IEA
GO:0014704	Component	Intercalated disc	IEA
GO:0015150	Function	Fucose transmembrane transporter activity	IEA
GO:0015756	Process	Fucose transmembrane transport	IEA
GO:0015911	Process	Long-chain fatty acid import across plasma membrane	IMP	10227690
GO:0016020	Component	Membrane	IDA	1714544, 10227690
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	RCA	10227690
GO:0016020	Component	Membrane	TAS	3028891, 9462754
GO:0016323	Component	Basolateral plasma membrane	IBA
GO:0016323	Component	Basolateral plasma membrane	IDA	31791063
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	ISS	18619525
GO:0016324	Component	Apical plasma membrane	IBA
GO:0016324	Component	Apical plasma membrane	IDA	31678436, 31791063
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS	18619525
GO:0019852	Process	L-ascorbic acid metabolic process	TAS
GO:0019900	Function	Kinase binding	IEA
GO:0021987	Process	Cerebral cortex development	IEA
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0030018	Component	Z disc	IEA
GO:0030496	Component	Midbody	IDA	15166316
GO:0030864	Component	Cortical actin cytoskeleton	IDA	18347014
GO:0031982	Component	Vesicle	IEA
GO:0032868	Process	Response to insulin	IBA
GO:0032868	Process	Response to insulin	IEA
GO:0033300	Function	Dehydroascorbic acid transmembrane transporter activity	EXP	9228080, 10862609
GO:0033300	Function	Dehydroascorbic acid transmembrane transporter activity	IEA
GO:0042149	Process	Cellular response to glucose starvation	IEA
GO:0042383	Component	Sarcolemma	IEA
GO:0042383	Component	Sarcolemma	ISS
GO:0042470	Component	Melanosome	IEA
GO:0042802	Function	Identical protein binding	IPI	1429721
GO:0042908	Process	Xenobiotic transport	IEA
GO:0042910	Function	Xenobiotic transmembrane transporter activity	IEA
GO:0045121	Component	Membrane raft	IEA
GO:0045202	Component	Synapse	IEA
GO:0045494	Process	Photoreceptor cell maintenance	IDA	25957687
GO:0045494	Process	Photoreceptor cell maintenance	ISS
GO:0046323	Process	D-glucose import	IBA
GO:0046323	Process	D-glucose import	IEA
GO:0055056	Function	D-glucose transmembrane transporter activity	IBA
GO:0055056	Function	D-glucose transmembrane transporter activity	IDA	2211693, 18245775, 25982116, 27078104
GO:0055056	Function	D-glucose transmembrane transporter activity	IEA
GO:0055056	Function	D-glucose transmembrane transporter activity	IMP	1714544, 10227690, 21791420, 28993322
GO:0055056	Function	D-glucose transmembrane transporter activity	TAS
GO:0055085	Process	Transmembrane transport	IEA
GO:0065003	Process	Protein-containing complex assembly	IDA	18347014
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0070837	Process	Dehydroascorbic acid transport	IBA
GO:0070837	Process	Dehydroascorbic acid transport	IEA
GO:0071260	Process	Cellular response to mechanical stimulus	IEA
GO:0071474	Process	Cellular hyperosmotic response	IEA
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:0098708	Process	D-glucose import across plasma membrane	IGI	23975336
GO:0098708	Process	D-glucose import across plasma membrane	IMP	1714544, 10227690, 28993322
GO:0098793	Component	Presynapse	IEA
GO:0150104	Process	Transport across blood-brain barrier	IGI	23975336
GO:0150104	Process	Transport across blood-brain barrier	IMP	1714544
GO:0150104	Process	Transport across blood-brain barrier	IMP	28993322
GO:0150104	Process	Transport across blood-brain barrier	NAS	10227690, 26590417, 30280653
GO:1904016	Process	Response to Thyroglobulin triiodothyronine	IEA
GO:1904659	Process	D-glucose transmembrane transport	IDA	1429721, 2211693, 18245775, 25982116, 27078104
GO:1904659	Process	D-glucose transmembrane transport	IEA
GO:1904659	Process	D-glucose transmembrane transport	IMP	21791420, 23280796
GO:1990350	Component	Glucose transporter complex	IPI	1429721

MIM	HGNC	e!Ensembl
138140	11005	ENSG00000117394

P11166

Protein name

Solute carrier family 2, facilitated glucose transporter member 1 (Glucose transporter type 1, erythrocyte/brain) (GLUT-1) (HepG2 glucose transporter)

Protein function

Facilitative glucose transporter, which is responsible for constitutive or basal glucose uptake (PubMed:10227690, PubMed:10954735, PubMed:18245775, PubMed:19449892, PubMed:25982116, PubMed:27078104, PubMed:32860739). Has a very broad substrate s

PDB

4PYP , 5EQG , 5EQH , 5EQI , 6THA

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00083	Sugar_tr	16 → 467	Sugar (and other) transporter	Family

Tissue specificity

TISSUE SPECIFICITY: Detected in erythrocytes (at protein level). Expressed at variable levels in many human tissues. {ECO:0000269|PubMed:23219802}.

Sequence

MEPSSKKLTGRLMLAVGGAVLGSLQFGYNTGVINAPQKVIEEFYNQTWVHRYGESILPTT
LTTLWSLSVAIFSVGGMIGSFSVGLFVNRFGRRNSMLMMNLLAFVSAVLMGFSKLGKSFE
MLILGRFIIGVYCGLTTGFVPMYVGEVSPTALRGALGTLHQLGIVVGILIAQVFGLDSIM
GNKDLWPLLLSIIFIPALLQCIVLPFCPESPRFLLINRNEENRAKSVLKKLRGTADVTHD
LQEMKEESRQMMREKKVTILELFRSPAYRQPILIAVVLQLSQQLSGINAVFYYSTSIFEK
AGVQQPVYATIGSGIVNTAFTVVSLFVVERAGRRTLHLIGLAGMAGCAILMTIALALLEQ
LPWMSYLSIVAIFGFVAFFEVGPGPIPWFIVAELFSQGPRPAAIAVAGFSNWTSNFIVGM
CFQYVEQLCGPYVFIIFTVLLVLFFIFTYFKVPETKGRTFDEIASGFRQGGASQSDKTPE
ELFHPLGADSQV

Sequence length

492

Interactions

View interactions

2172

Show/Hide Causal Diseases (25)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of metabolism/homeostasis	Pathogenic	rs1431778557	RCV001003569
Cerebellar ataxia	Pathogenic	rs1057518821	RCV000415305
Childhood onset GLUT1 deficiency syndrome 2	Likely pathogenic; Pathogenic	rs13306758, rs1643479461, rs2124449089, rs2124448826, rs11537641, rs2124447951, rs2124446500, rs2524992538, rs80359825, rs794729221, rs80359826, rs796053248, rs796053272, rs794727870, rs776095655 View all (22 more)	RCV000762930 RCV005867010 RCV001449667 RCV001542520 RCV006257338 RCV001797559 RCV001822976 RCV004771524 RCV000763336 RCV001333547 RCV001004692 RCV000763337 RCV000850603 RCV000209836 RCV005256588 RCV003315192 RCV004720393 RCV002288508 RCV000017492 RCV000017493 RCV000017494 RCV000030921 RCV000017496 RCV000030922 RCV000030838 RCV000017499 RCV002468576 RCV000022575 RCV002470868 RCV000498692 RCV001814181 RCV000760180 RCV002501134 RCV001003340 RCV001542521 RCV001089897 RCV001249689 RCV001255171
Chromosome 17q23.1-q23.2 deletion syndrome	Likely pathogenic; Pathogenic	rs80359818	RCV004791223
Colon adenocarcinoma	Likely pathogenic	rs771386274	RCV005895439
Developmental and epileptic encephalopathy, 1	Pathogenic	rs2524999421	RCV002284144
Developmental disorder	Likely pathogenic; Pathogenic	rs202060209	RCV001843456
Dystonia 9	Likely pathogenic; Pathogenic	rs13306758, rs11537641, rs2124449015, rs2124445661, rs2124446305, rs2124446490, rs2124449287, rs2124449452, rs2124450950, rs2124461913, rs2124461926, rs587784390, rs80359825, rs796053263, rs80359826 View all (11 more)	RCV000762930 RCV006257338 RCV002246534 RCV002246711 RCV002246712 RCV002246713 RCV002246714 RCV002246715 RCV002246716 RCV002246717 RCV002246718 RCV005243132 RCV000763336 RCV003137767 RCV001249688 RCV002247611 RCV000763337 RCV000850603 RCV003128185 RCV003337741 RCV002288509 RCV000030839 RCV000030840 RCV000760180 RCV002501134 RCV001249689
Encephalopathy due to GLUT1 deficiency	Likely pathogenic; Pathogenic	rs2124448063, rs754791604, rs13306758, rs2124450705, rs2124449299, rs2124449417, rs11537641, rs2124450697, rs112081052, rs2124445519, rs2124449015, rs2124450950, rs587784391, rs587784397, rs587784396 View all (76 more)	RCV001647141 RCV001647242 RCV000762930 RCV001353343 RCV003446737 RCV003446735 RCV006257338 RCV005868221 RCV001775326 RCV001786326 RCV003446921 RCV003445154 RCV000147519 RCV000147535 RCV000147531 RCV000147518 RCV000147524 RCV002255241 RCV003322631 RCV005254047 RCV002468791 RCV003445177 RCV003445605 RCV000763336 RCV000184042 RCV003445662 RCV003445661 RCV000679880 RCV003445651 RCV001781556 RCV000193872 RCV000763337 RCV001253255 RCV000850603 RCV003445632 RCV003445691 RCV000224978 RCV001253348 RCV000678305 RCV003445826 RCV003340746 RCV003337726 RCV003387552 RCV003479918 RCV000017486 RCV000017487 RCV002271987 RCV000017490 RCV000017491 RCV003445076 RCV001253635 RCV000147534 RCV001291641 RCV000017498 RCV002243647 RCV003445919 RCV003445924 RCV003446013 RCV003445980 RCV003445994 RCV003446077 RCV000517267 RCV003446135 RCV002265788 RCV003446149 RCV003445090 RCV003445091 RCV000578223 RCV003446156 RCV000585705 RCV003446271 RCV003446273 RCV003446275 RCV003446274 RCV003446415 RCV000735239 RCV000760180 RCV003446425 RCV000785926 RCV002283514 RCV000986291 RCV000995645 RCV003446462 RCV000824820 RCV000986289 RCV000986290 RCV000986292 RCV000986293 RCV000995643 RCV000995644 RCV003446586 RCV003446616 RCV003446617 RCV001249689 RCV001253375 RCV001253108
Epilepsy	Pathogenic	rs80359826	RCV000415466
Epilepsy with myoclonic atonic seizures	Pathogenic	rs2524990003	RCV002284149
Epilepsy, idiopathic generalized, susceptibility to, 12	Likely pathogenic; Pathogenic	rs13306758, rs11537641, rs1553156086, rs80359825, rs796053248, rs796053272, rs2124446216, rs1057521066, rs387907313, rs1557646867, rs80359812	RCV000082868 RCV006257338 RCV002273876 RCV000763336 RCV000763337 RCV000850603 RCV003221773 RCV002274028 RCV000030841 RCV000760180 RCV002501134
Global developmental delay	Pathogenic	rs1057518821, rs1570592604	RCV000415305 RCV001003570
GLUT1 deficiency syndrome	Likely pathogenic; Pathogenic	rs2124449030, rs80359825, rs80359823, rs267607061, rs1345986424, rs1553157935, rs80359819	RCV002273212 RCV000500584 RCV002272166 RCV006249559 RCV000502046 RCV001249305 RCV000770978
GLUT1 deficiency syndrome 1, autosomal recessive	Likely pathogenic; Pathogenic	rs2124448063, rs754791604, rs13306758, rs2124446605, rs2124448423, rs2124447989, rs80359843, rs2124448851, rs2124448988, rs2124449099, rs2124449299, rs2124449417, rs1643479461, rs2124450132, rs2124450273 View all (123 more)	RCV001376893 RCV003517326 RCV000701550 RCV001379801 RCV001379976 RCV001381772 RCV001386517 RCV001382607 RCV001388896 RCV001385553 RCV001386229 RCV001381258 RCV001390268 RCV001389872 RCV001385177 RCV001380504 RCV005095137 RCV001987378 RCV001988848 RCV002027882 RCV002014835 RCV002037645 RCV001871273 RCV001920766 RCV001953263 RCV001893165 RCV001966816 RCV001949288 RCV002019171 RCV001933932 RCV001941855 RCV001939579 RCV001974826 RCV001951124 RCV001950465 RCV001946595 RCV001972535 RCV002010031 RCV001956965 RCV002024775 RCV005089715 RCV002516600 RCV002648144 RCV002664156 RCV002634287 RCV002634288 RCV002664157 RCV002648146 RCV001390266 RCV002517900 RCV000463311 RCV000461498 RCV003517145 RCV000458906 RCV001380032 RCV000546488 RCV001365001 RCV002514063 RCV002819269 RCV002839231 RCV002852534 RCV002852915 RCV002885151 RCV002938487 RCV003009255 RCV003045403 RCV003063972 RCV001390267 RCV000694332 RCV001855067 RCV003517485 RCV003517498 RCV003517892 RCV003517990 RCV003517980 RCV003517903 RCV003518178 RCV003518722 RCV003518725 RCV003518726 RCV003516703 RCV003517010 RCV003516871 RCV003516863 RCV003517688 RCV003631695 RCV003631584 RCV003631925 RCV003631998 RCV003632023 RCV003632149 RCV003632150 RCV003632051 RCV003632146 RCV003632203 RCV000017489 RCV001387741 RCV002513077 RCV000473987 RCV001851890 RCV000648074 RCV000546969 RCV000705009 RCV001850982 RCV000458446 RCV001865350 RCV001865327 RCV002524897 RCV001851153 RCV000792856 RCV001853647 RCV000559813 RCV000539168 RCV000814788 RCV001063268 RCV002529042 RCV001043469 RCV001389445 RCV000648082 RCV000648091 RCV000648089 RCV000648086 RCV000648085 RCV000701808 RCV000689962 RCV001855780 RCV001869075 RCV000808808 RCV000804759 RCV000821549 RCV000801605 RCV000799264 RCV000800135 RCV000805606 RCV000819798 RCV000820367 RCV000823207 RCV001049017 RCV001069131 RCV001862694 RCV001218801 RCV001214425 RCV001205552 RCV001227926 RCV001233741 RCV001240060 RCV001247122 RCV001246954 RCV001234994
Hereditary cryohydrocytosis with reduced stomatin	Likely pathogenic; Pathogenic	rs13306758, rs11537641, rs80359825, rs80359826, rs796053248, rs796053272, rs864309514, rs864309522, rs80359818, rs1557646867, rs80359812, rs1643457017	RCV000762930 RCV006257338 RCV000763336 RCV001249688 RCV000763337 RCV000850603 RCV000202596 RCV000202573 RCV000824987 RCV000760180 RCV002501134 RCV001249689
intellectual deficiency	Pathogenic	rs80359826	RCV000415466
Intellectual disability	Pathogenic; Likely pathogenic	rs794729221, rs80359823, rs794727642, rs202060209, rs1431778557, rs773339124, rs1643480923, rs1643481930	RCV000224228 RCV005625411 RCV001255335 RCV000850197 RCV000850196 RCV001255358 RCV001255340 RCV001257676
Microcephaly	Pathogenic	rs80359826, rs1057518821, rs1431778557	RCV000415466 RCV000415305 RCV001003569
Myoclonus	Pathogenic	rs1057518821	RCV000415305
Paroxysmal dystonia	Likely pathogenic; Pathogenic	rs1057518953	RCV000415325
Seizure	Likely pathogenic; Pathogenic	rs2124446220, rs587784397, rs886039517, rs121909739, rs267607061, rs1057518821, rs80359812, rs1570592604	RCV005624499 RCV005624330 RCV003380534 RCV005624285 RCV001548750 RCV000415305 RCV005624431 RCV001003570
Self-limited epilepsy with centrotemporal spikes	Pathogenic	rs1553155982	RCV000655968
SLC2A1-related disorder	Likely pathogenic; Pathogenic	rs80359825, rs796053254, rs2524998439, rs267607061, rs80359818, rs2525035112, rs2524982606, rs80359843, rs1553155986, rs1553157935, rs1643441930	RCV005868051 RCV004725037 RCV004552492 RCV004549375 RCV004737154 RCV004550881 RCV004554445 RCV004555083 RCV005869576 RCV004553293 RCV001267666
Strabismus	Pathogenic	rs1570592604	RCV001003570

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Beckwith-Wiedemann syndrome	Conflicting classifications of pathogenicity	rs142986731	RCV005625610
Dystonic disorder	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	rs531385270, rs886046340, rs528964239, rs886046345, rs867977523, rs886046344, rs28365848, rs3754226, rs886046343, rs561646847, rs544483207, rs886046346, rs886046347	RCV000284359 RCV000398147 RCV000306755 RCV000266873 RCV000333448 RCV000364907 RCV000318285 RCV000347903 RCV000349832 RCV000310108 RCV000263241 RCV000292934 RCV000344410
Gastric cancer	Conflicting classifications of pathogenicity	rs1425773776	RCV005910983
Hepatocellular carcinoma	Benign	rs55728431	RCV005891708
Malignant lymphoma, large B-cell, diffuse	Benign	rs2229682	RCV005886525
Parkinsonian disorder	Conflicting classifications of pathogenicity	rs766376173	RCV005625385
Paroxysmal central nervous system disorders	Benign; Likely benign	rs13306757	RCV006439664
See cases	Conflicting classifications of pathogenicity	rs751573593, rs796053252	RCV002252037 RCV002252036
Uterine carcinosarcoma	Benign	rs2229682	RCV005886526
Uterine corpus endometrial carcinoma	Benign	rs74068366	RCV005925246

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenoma Oxyphilic	Associate	28790533
Carcinoma Hepatocellular	Associate	28790533
Carcinoma Non Small Cell Lung	Associate	39251710
Glioma	Associate	34520391
Glut1 Deficiency Syndrome	Associate	37000947
Melanoma	Associate	26293674
Neoplasms	Associate	22227015, 28790533, 39251710

SLC2A1 (solute carrier family 2 member 1)