IRS1

insulin receptor substrate 1

Summary

This gene encodes a protein which is phosphorylated by insulin receptor tyrosine kinase. Mutations in this gene are associated with type II diabetes and susceptibility to insulin resistance. [provided by RefSeq, Nov 2009]

Known Variants96 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs79639690	2:227,605,895	T/C	intron variant	—
rs10205233	2:227,614,005	C/T	intron variant	—
rs568015710	2:227,635,865	A/T	—	—
rs558525498	2:227,650,791	G/A	—	—
rs201209127	2:227,650,928	G/A	—	—
rs78034425	2:227,650,985	C/A	—	—
rs777548680	2:227,659,751	T/C	—	uncertain significance
rs548956412	2:227,659,815	C/G	—	uncertain significance
rs973649983	2:227,659,820	C/T	—	uncertain significance
rs140904930	2:227,659,876	C/T	—	benign
rs553359474	2:227,659,940	C/A	—	uncertain significance
rs143317854	2:227,659,966	T/G	—	benign
rs3731594	2:227,660,046	C/T	—	benign
rs200142054	2:227,660,049	C/T	—	conflicting classifications of pathogenicity
rs2469361343	2:227,660,079	C/G	—	uncertain significance
rs112888661	2:227,660,090	C/A	—	uncertain significance
rs143913301	2:227,660,093	G/A	—	uncertain significance
rs974159919	2:227,660,105	A/C	—	uncertain significance
rs146121894	2:227,660,133	G/C	—	uncertain significance
rs199554914	2:227,660,169	G/C	—	uncertain significance
rs781408207	2:227,660,190	G/A	—	uncertain significance
rs200670773	2:227,660,214	G/A	—	uncertain significance
rs148962208	2:227,660,220	G/A	—	uncertain significance
rs746305011	2:227,660,285	G/A	—	uncertain significance
rs748385460	2:227,660,324	G/A	—	uncertain significance
rs756650445	2:227,660,376	G/A	—	uncertain significance
rs751826393	2:227,660,436	C/T	—	uncertain significance
rs373248004	2:227,660,441	G/A	—	uncertain significance
rs1351460589	2:227,660,447	T/G	—	uncertain significance
rs1251154706	2:227,660,516	C/T	—	uncertain significance
rs1801278	2:227,660,544	C/T	missense variant	benign
rs781090877	2:227,660,574	C/T	—	uncertain significance
rs1939710780	2:227,660,616	C/T	—	uncertain significance
rs142101835	2:227,660,641	A/G	—	likely benign
rs2229613	2:227,660,689	C/T	—	benign
rs569587604	2:227,660,777	G/A	—	uncertain significance
rs1801277	2:227,660,781	T/C	—	benign
rs1574664761	2:227,660,795	G/C	—	uncertain significance
rs201638994	2:227,660,895	G/A	—	uncertain significance
rs2469363120	2:227,660,906	T/C	—	uncertain significance
rs1210358583	2:227,660,951	T/A	—	uncertain significance
rs41265094	2:227,661,003	C/G	—	likely benign
rs1801123	2:227,661,043	T/A	synonymous variant	—
rs778839568	2:227,661,086	C/T	—	uncertain significance
rs745358781	2:227,661,087	G/C	—	uncertain significance
rs769492524	2:227,661,093	G/A	—	uncertain significance
rs137866175	2:227,661,097	A/G	—	likely benign
rs768273402	2:227,661,101	C/T	—	uncertain significance
rs151052373	2:227,661,115	C/T	—	likely benign
rs143341783	2:227,661,192	C/A	—	uncertain significance
rs754509651	2:227,661,293	C/G	—	uncertain significance
rs142818292	2:227,661,371	T/A	—	uncertain significance
rs200698564	2:227,661,391	G/A	—	likely benign
rs757010026	2:227,661,394	G/A	—	likely benign
rs34909077	2:227,661,451	G/A	—	benign
rs138035227	2:227,661,469	G/A	—	benign
rs1201079986	2:227,661,527	G/A	—	uncertain significance
rs777096116	2:227,661,548	C/T	—	uncertain significance
rs104893642	2:227,661,632	G/C	missense variant	pathogenic
rs375677810	2:227,661,657	G/T	—	uncertain significance
rs139287405	2:227,661,665	C/T	—	likely benign
rs769250896	2:227,661,669	C/A	—	uncertain significance
rs1389086923	2:227,661,713	G/A	—	uncertain significance
rs2469365706	2:227,661,798	C/G	—	uncertain significance
rs1801276	2:227,661,921	C/G	—	benign
rs1574666152	2:227,661,997	A/G	—	likely benign
rs79966905	2:227,662,015	G/A	—	benign
rs1352149861	2:227,662,025	G/A	—	uncertain significance
rs1314200202	2:227,662,053	T/C	—	uncertain significance
rs564378481	2:227,662,103	C/T	—	uncertain significance
rs3731596	2:227,662,189	A/G	—	benign
rs2469366767	2:227,662,226	C/T	—	uncertain significance
rs139675201	2:227,662,312	G/A	—	likely benign
rs762739828	2:227,662,337	C/T	—	uncertain significance
rs147944503	2:227,662,338	G/A	—	uncertain significance
rs2469367145	2:227,662,344	G/T	—	uncertain significance
rs376825507	2:227,662,435	G/A	—	likely benign
rs1386587599	2:227,662,532	A/C	—	uncertain significance
rs781558518	2:227,662,536	T/C	—	uncertain significance
rs1397135584	2:227,662,581	G/A	—	uncertain significance
rs2469367908	2:227,662,586	T/C	—	uncertain significance
rs374471017	2:227,662,617	T/C	—	uncertain significance
rs201110062	2:227,662,631	T/G	—	uncertain significance
rs2469368139	2:227,662,677	T/G	—	uncertain significance
rs2469368148	2:227,662,680	C/T	—	uncertain significance
rs749277845	2:227,662,796	A/T	—	uncertain significance
rs910703300	2:227,663,109	G/A	—	uncertain significance
rs139921079	2:227,663,149	C/G	—	uncertain significance
rs2469369590	2:227,663,169	C/G	—	uncertain significance
rs556393597	2:227,663,191	G/C	—	likely benign
rs764111957	2:227,663,261	G/T	—	uncertain significance
rs1939807252	2:227,663,280	C/A	—	uncertain significance
rs61734194	2:227,663,323	G/A	—	benign
rs1939811520	2:227,663,344	C/A	—	uncertain significance
rs754992737	2:227,663,396	C/A	—	uncertain significance
rs1222939491	2:227,663,445	G/A	—	uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.