INSR

insulin receptor

Summary

This gene encodes a member of the receptor tyrosine kinase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form a heterotetrameric receptor. Binding of insulin or other ligands to this receptor activates the insulin signaling pathway, which regulates glucose uptake and release, as well as the synthesis and storage of carbohydrates, lipids and protein. Mutations in this gene underlie the inherited severe insulin resistance syndromes including type A insulin resistance syndrome, Donohue syndrome and Rabson-Mendenhall syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]

Known Variants613 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs138569451	19:7,112,264	C/T	—	likely benign
rs12150997	19:7,112,265	G/A	—	benign
rs10415841	19:7,112,273	A/G	—	benign
rs574836227	19:7,112,307	C/T	—	likely benign
rs886054658	19:7,112,331	A/C	—	uncertain significance
rs147343062	19:7,112,355	A/G	—	uncertain significance
rs546415055	19:7,112,371	A/G	—	uncertain significance
rs10413914	19:7,112,465	G/A	—	benign
rs1052371	19:7,112,593	A/G	—	benign
rs12642	19:7,112,645	C/A	—	benign
rs1016440018	19:7,112,687	C/T	—	uncertain significance
rs886054659	19:7,112,688	G/A	—	uncertain significance
rs1277836861	19:7,112,691	C/G	—	uncertain significance
rs886054660	19:7,112,693	C/T	—	uncertain significance
rs886054661	19:7,112,718	G/A	—	uncertain significance
rs74433419	19:7,112,797	C/T	—	benign
rs10416396	19:7,112,849	C/G	—	benign
rs1366601	19:7,112,872	A/G	—	benign
rs1366600	19:7,112,881	A/G	downstream gene variant	benign
rs184154294	19:7,113,173	C/T	—	uncertain significance
rs148660410	19:7,113,190	A/G	—	likely benign
rs912366991	19:7,113,209	C/T	—	uncertain significance
rs114405975	19:7,113,210	G/A	—	benign
rs1233808516	19:7,113,212	G/C	—	uncertain significance
rs115012090	19:7,113,281	C/G	—	benign
rs886054662	19:7,113,374	C/T	—	uncertain significance
rs143409422	19:7,113,382	A/G	—	likely benign
rs753611294	19:7,113,413	C/T	—	uncertain significance
rs77859571	19:7,113,444	T/C	—	benign
rs75499056	19:7,113,475	T/C	—	benign
rs116953519	19:7,113,526	G/A	—	benign
rs115358150	19:7,113,604	T/C	—	benign
rs561270909	19:7,113,702	G/T	—	likely benign
rs146249924	19:7,113,708	C/T	—	likely benign
rs184243377	19:7,113,769	G/A	—	uncertain significance
rs1474403993	19:7,113,966	G/C	—	uncertain significance
rs72988602	19:7,114,038	G/A	—	benign
rs1037171690	19:7,114,048	G/T	—	uncertain significance
rs533582304	19:7,114,054	G/C	—	uncertain significance
rs1864193	19:7,114,213	A/C	—	benign
rs186288667	19:7,114,214	A/G	—	uncertain significance
rs139376149	19:7,114,247	C/T	—	likely benign
rs9282760	19:7,114,274	G/T	—	benign
rs3745551	19:7,114,288	C/T	—	benign
rs577444458	19:7,114,315	G/A	—	uncertain significance
rs973027799	19:7,114,499	C/T	—	uncertain significance
rs117532686	19:7,114,502	G/A	—	likely benign
rs114982195	19:7,114,548	C/T	—	benign
rs886054668	19:7,114,550	T/C	—	uncertain significance
rs149795309	19:7,114,565	T/C	—	benign
rs1401575339	19:7,114,592	T/C	—	uncertain significance
rs181555180	19:7,114,603	G/A	—	uncertain significance
rs145777450	19:7,114,611	G/A	—	likely benign
rs886054669	19:7,114,662	T/A	—	uncertain significance
rs78987925	19:7,114,727	C/T	—	benign
rs561917859	19:7,114,745	C/T	—	uncertain significance
rs80330850	19:7,114,749	C/T	—	conflicting classifications of pathogenicity
rs547131375	19:7,114,812	A/C	—	uncertain significance
rs570523460	19:7,114,907	C/A	—	uncertain significance
rs886054670	19:7,114,918	G/A	—	uncertain significance
rs886054671	19:7,114,931	A/T	—	uncertain significance
rs1972287724	19:7,114,965	A/G	—	uncertain significance
rs754015320	19:7,115,044	T/C	—	uncertain significance
rs556567528	19:7,115,053	G/A	—	likely benign
rs55972112	19:7,115,057	C/T	—	benign
rs886054672	19:7,115,100	C/T	—	uncertain significance
rs186013503	19:7,115,150	C/G	—	uncertain significance
rs989727643	19:7,115,158	T/C	—	uncertain significance
rs41315072	19:7,115,197	G/C	—	likely benign
rs111750247	19:7,115,236	G/A	—	uncertain significance
rs147080388	19:7,115,268	G/A	—	likely benign
rs886054673	19:7,115,475	C/T	—	uncertain significance
rs545450279	19:7,115,476	G/A	—	uncertain significance
rs535755401	19:7,115,483	G/C	—	uncertain significance
rs367868568	19:7,115,493	C/T	—	uncertain significance
rs549250341	19:7,115,494	G/A	—	uncertain significance
rs886054674	19:7,115,542	C/T	—	uncertain significance
rs3745550	19:7,115,573	T/C	—	benign
rs111557734	19:7,115,635	G/A	—	benign
rs142596192	19:7,115,875	C/T	—	likely benign
rs564677377	19:7,115,876	A/G	—	uncertain significance
rs1972310295	19:7,115,877	T/C	—	uncertain significance
rs188386673	19:7,115,896	G/A	—	likely benign
rs192753442	19:7,115,930	T/C	—	uncertain significance
rs146905190	19:7,115,951	C/T	—	likely benign
rs116422284	19:7,115,978	T/C	—	benign
rs141647996	19:7,116,000	C/T	—	uncertain significance
rs756351376	19:7,116,022	G/A	—	uncertain significance
rs766637171	19:7,116,066	T/C	—	uncertain significance
rs372034184	19:7,116,068	T/C	—	uncertain significance
rs988651664	19:7,116,108	T/C	—	uncertain significance
rs886054677	19:7,116,214	T/G	—	uncertain significance
rs1051651	19:7,116,283	G/C	—	benign
rs1459964736	19:7,116,324	T/C	—	uncertain significance
rs779517721	19:7,116,454	G/A	—	uncertain significance
rs562228680	19:7,116,566	A/C	—	likely benign
rs1173572474	19:7,116,568	C/A	—	uncertain significance
rs1325974020	19:7,116,625	C/A	—	uncertain significance
rs1353247571	19:7,116,711	C/A	—	uncertain significance
rs1016923782	19:7,116,733	G/A	—	uncertain significance

Showing 100 of 613 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.