IGF1R

insulin like growth factor 1 receptor

Summary

This receptor binds insulin-like growth factor with a high affinity. It has tyrosine kinase activity. The insulin-like growth factor I receptor plays a critical role in transformation events. Cleavage of the precursor generates alpha and beta subunits. It is highly overexpressed in most malignant tissues where it functions as an anti-apoptotic agent by enhancing cell survival. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]

Known Variants954 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs777217358	15:99,192,760	T/C	—	benign
rs768733704	15:99,192,768	T/C	—	uncertain significance
rs2052295004	15:99,192,807	A/G	—	uncertain significance
rs2505321709	15:99,192,812	T/A	—	likely pathogenic
rs34226328	15:99,192,825	C/T	—	benign
rs199652097	15:99,192,826	G/A	—	likely benign
rs530243293	15:99,192,838	C/T	—	uncertain significance
rs774479139	15:99,192,845	C/G	—	uncertain significance
rs770977775	15:99,192,853	G/A	—	uncertain significance
rs1319522971	15:99,192,858	C/A	—	likely benign
rs765477320	15:99,192,865	C/T	—	uncertain significance
rs367826969	15:99,192,869	C/T	—	uncertain significance
rs2505322166	15:99,192,870	C/T	—	likely benign
rs1013771934	15:99,192,881	C/T	—	uncertain significance
rs749920743	15:99,192,885	C/T	—	likely benign
rs2141155238	15:99,192,887	G/A	—	likely pathogenic
rs779890447	15:99,192,890	C/T	—	uncertain significance
rs372748482	15:99,192,894	G/A	—	conflicting classifications of pathogenicity
rs201544675	15:99,192,911	A/G	—	likely benign
rs35275105	15:99,192,918	C/T	—	benign
rs139440044	15:99,192,919	G/A	—	likely benign
rs7402982	15:99,193,269	A/G	regulatory region variant	—
rs2871865	15:99,194,896	C/G	regulatory region variant	—
rs4966011	15:99,204,006	G/A	intron variant	—
rs146465276	15:99,204,170	C/T	intron variant	—
rs12899533	15:99,205,180	G/A	regulatory region variant	—
rs12914977	15:99,205,224	C/T	intron variant	—
rs56803094	15:99,222,509	A/G	intron variant	—
rs1317459	15:99,228,579	C/G	regulatory region variant	—
rs57221746	15:99,230,035	G/A	intron variant	—
rs58139454	15:99,230,162	G/C	intron variant	—
rs58553392	15:99,233,793	C/A	—	—
rs62024478	15:99,234,176	C/T	intron variant	—
rs1976667	15:99,236,502	G/A	intron variant	—
rs62024481	15:99,238,661	C/T	intron variant	—
rs7166348	15:99,247,795	G/A	intron variant	—
rs4965426	15:99,248,041	G/A	intron variant	—
rs1481039914	15:99,250,773	C/T	—	likely benign
rs758327569	15:99,250,795	C/T	—	likely benign
rs2141258649	15:99,250,796	G/C	—	uncertain significance
rs2053895890	15:99,250,810	C/T	—	uncertain significance
rs1596214066	15:99,250,814	C/T	—	likely pathogenic
rs1409058783	15:99,250,815	G/A	—	uncertain significance
rs142940594	15:99,250,819	C/T	—	likely benign
rs2505514642	15:99,250,844	G/T	—	pathogenic
rs375188453	15:99,250,855	G/A	—	likely benign
rs2141258832	15:99,250,862	G/A	—	uncertain significance
rs149417802	15:99,250,885	C/T	—	conflicting classifications of pathogenicity
rs372975602	15:99,250,886	A/G	—	uncertain significance
rs45468203	15:99,250,897	C/T	—	likely benign
rs1567086828	15:99,250,904	T/G	—	uncertain significance
rs780055504	15:99,250,908	G/A	—	uncertain significance
rs55770488	15:99,250,921	C/T	—	likely benign
rs1235094252	15:99,250,932	C/T	—	uncertain significance
rs34868731	15:99,250,933	G/C	—	likely benign
rs2141259077	15:99,250,941	C/T	—	uncertain significance
rs1218418397	15:99,250,942	C/T	—	likely benign
rs1250751011	15:99,250,957	G/C	—	uncertain significance
rs121912428	15:99,250,961	C/T	stop gained	protective
rs771597784	15:99,250,975	C/T	—	likely benign
rs776250673	15:99,250,976	G/A	—	uncertain significance
rs2053900442	15:99,250,985	G/A	—	uncertain significance
rs2505515638	15:99,250,992	T/A	—	uncertain significance
rs764931907	15:99,250,996	C/T	—	likely benign
rs2053900874	15:99,250,998	C/T	—	uncertain significance
rs775075480	15:99,250,999	C/A	—	likely benign
rs1267154320	15:99,251,014	C/T	—	uncertain significance
rs763743119	15:99,251,016	G/A	—	uncertain significance
rs954863320	15:99,251,017	C/G	—	likely benign
rs2053901537	15:99,251,026	A/G	—	likely benign
rs1555434205	15:99,251,054	T/G	—	uncertain significance
rs1555434208	15:99,251,057	G/A	—	likely pathogenic
rs2505516154	15:99,251,066	A/C	—	uncertain significance
rs1436887637	15:99,251,075	G/A	—	uncertain significance
rs758659893	15:99,251,078	A/G	—	uncertain significance
rs1596214576	15:99,251,080	T/C	—	pathogenic
rs35385418	15:99,251,098	G/A	—	benign
rs2505516305	15:99,251,100	A/G	—	uncertain significance
rs121912426	15:99,251,109	G/A	missense variant	protective
rs926370406	15:99,251,115	C/T	—	uncertain significance
rs121912427	15:99,251,131	A/C	missense variant	protective
rs2141259608	15:99,251,132	A/G	—	uncertain significance
rs774104340	15:99,251,153	T/A	—	uncertain significance
rs2141259693	15:99,251,170	C/T	—	likely benign
rs765173001	15:99,251,185	G/A	—	likely benign
rs45582234	15:99,251,188	G/A	—	likely benign
rs2505516802	15:99,251,211	A/G	—	uncertain significance
rs1413424650	15:99,251,222	A/G	—	uncertain significance
rs201351992	15:99,251,233	G/A	—	conflicting classifications of pathogenicity
rs768277958	15:99,251,245	A/G	—	likely benign
rs144739747	15:99,251,264	C/T	—	conflicting classifications of pathogenicity
rs17847210	15:99,251,266	G/A	—	likely benign
rs2505517201	15:99,251,271	G/A	—	uncertain significance
rs139571991	15:99,251,284	C/G	—	benign
rs149734961	15:99,251,287	C/G	—	uncertain significance
rs2053907780	15:99,251,292	A/C	—	uncertain significance
rs145668206	15:99,251,301	A/G	—	conflicting classifications of pathogenicity
rs187055675	15:99,251,302	C/T	—	likely benign
rs2053908068	15:99,251,303	T/C	—	uncertain significance
rs1345546886	15:99,251,324	C/T	—	uncertain significance

Showing 100 of 954 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.