INS

insulin

Summary

This gene encodes insulin, a peptide hormone that plays a vital role in the regulation of carbohydrate and lipid metabolism. After removal of the precursor signal peptide, proinsulin is post-translationally cleaved into three peptides: the B chain and A chain peptides, which are covalently linked via two disulfide bonds to form insulin, and C-peptide. Binding of insulin to the insulin receptor (INSR) stimulates glucose uptake. A multitude of mutant alleles with phenotypic effects have been identified, including insulin-dependent diabetes mellitus, permanent neonatal diabetes diabetes mellitus, maturity-onset diabetes of the young type 10 and hyperproinsulinemia. There is a read-through gene, INS-IGF2, which overlaps with this gene at the 5' region and with the IGF2 gene at the 3' region. [provided by RefSeq, May 2020]

Known Variants114 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs3842756	11:2,180,772	C/T	—	benign
rs3842755	11:2,180,796	C/A	—	benign
rs3842754	11:2,180,845	G/A	downstream gene variant	benign
rs397515519	11:2,181,023	T/C	—	pathogenic
rs2495745509	11:2,181,033	C/T	—	likely benign
rs376867722	11:2,181,040	G/A	—	conflicting classifications of pathogenicity
rs778107057	11:2,181,054	C/T	—	conflicting classifications of pathogenicity
rs200306755	11:2,181,080	G/A	—	conflicting classifications of pathogenicity
rs2133672742	11:2,181,089	C/A	—	likely pathogenic
rs80356672	11:2,181,092	T/C	missense variant	likely risk allele
rs2133672778	11:2,181,093	A/C	—	likely pathogenic
rs2495746341	11:2,181,098	T/A	—	uncertain significance
rs121908277	11:2,181,107	T/C	—	conflicting classifications of pathogenicity
rs121908276	11:2,181,113	G/C	—	likely risk allele
rs2495746447	11:2,181,116	C/T	—	uncertain significance
rs2133672883	11:2,181,122	C/A	—	likely pathogenic
rs1252051752	11:2,181,123	T/A	—	uncertain significance
rs1564911425	11:2,181,125	G/C	—	conflicting classifications of pathogenicity
rs2133672927	11:2,181,126	T/G	—	likely pathogenic
rs80356671	11:2,181,128	C/T	missense variant	pathogenic
rs1845839718	11:2,181,129	A/G	—	likely risk allele
rs2495746594	11:2,181,131	C/T	—	likely pathogenic
rs750063397	11:2,181,136	T/C	—	likely benign
rs1057524907	11:2,181,137	T/C	missense variant	pathogenic
rs2495746652	11:2,181,138	C/T	—	conflicting classifications of pathogenicity
rs121918102	11:2,181,141	C/A	missense variant	pathogenic
rs2495746689	11:2,181,143	A/G	—	uncertain significance
rs80356670	11:2,181,147	C/A	missense variant	uncertain significance
rs28933985	11:2,181,149	C/T	missense variant	pathogenic
rs80356669	11:2,181,150	G/A	missense variant	pathogenic
rs121908274	11:2,181,165	C/T	—	uncertain significance
rs1845841152	11:2,181,166	C/T	—	likely benign
rs139264769	11:2,181,188	C/T	—	conflicting classifications of pathogenicity
rs144093133	11:2,181,191	C/T	—	conflicting classifications of pathogenicity
rs780264600	11:2,181,203	C/G	—	uncertain significance
rs768647623	11:2,181,208	G/A	—	likely benign
rs866840557	11:2,181,209	C/T	—	uncertain significance
rs121908279	11:2,181,213	G/T	—	uncertain significance
rs773102009	11:2,181,221	T/C	—	uncertain significance
rs886048111	11:2,181,230	G/T	—	conflicting classifications of pathogenicity
rs41275198	11:2,181,237	C/T	—	likely benign
rs201659391	11:2,181,238	G/A	—	benign
rs5507	11:2,181,243	G/A	—	likely benign
rs370792256	11:2,181,244	C/T	—	likely benign
rs797045623	11:2,181,258	C/T	—	pathogenic
rs545716462	11:2,181,267	G/A	—	likely benign
rs1042524703	11:2,181,270	G/A	—	uncertain significance
rs565314634	11:2,181,323	C/T	—	conflicting classifications of pathogenicity
rs746839746	11:2,181,324	G/A	—	uncertain significance
rs3842749	11:2,181,338	A/G	—	benign
rs529554227	11:2,181,341	C/A	—	likely benign
rs1378546387	11:2,181,364	T/A	—	uncertain significance
rs3842748	11:2,181,395	G/C	—	benign
rs561372758	11:2,181,447	G/A	—	likely benign
rs970395863	11:2,181,460	G/A	—	uncertain significance
rs556749542	11:2,181,624	G/A	—	likely benign
rs113412173	11:2,181,733	C/T	—	likely benign
rs1845862881	11:2,181,744	T/C	—	uncertain significance
rs3842746	11:2,181,770	G/A	—	likely benign
rs886041083	11:2,181,774	C/T	—	uncertain significance
rs147024795	11:2,181,812	C/T	—	likely benign
rs754089310	11:2,182,000	G/T	—	uncertain significance
rs748317301	11:2,182,009	G/C	—	likely benign
rs121908261	11:2,182,039	G/A	missense variant	pathogenic
rs773789432	11:2,182,049	T/C	—	conflicting classifications of pathogenicity
rs1309249512	11:2,182,052	G/A	—	likely benign
rs148685531	11:2,182,055	G/A	synonymous variant	uncertain significance
rs80356668	11:2,182,059	A/G	missense variant	pathogenic
rs80356667	11:2,182,062	C/A	missense variant	uncertain significance
rs121908260	11:2,182,065	C/T	missense variant	pathogenic
rs1225892123	11:2,182,066	G/A	—	likely pathogenic
rs765512575	11:2,182,072	C/T	—	conflicting classifications of pathogenicity
rs80356666	11:2,182,075	A/C	missense variant	pathogenic
rs886037863	11:2,182,077	A/G	missense variant	pathogenic
rs2133676660	11:2,182,087	G/A	—	likely pathogenic
rs121908273	11:2,182,098	A/G	—	not provided
rs1278232284	11:2,182,099	G/C	—	likely pathogenic
rs1564912274	11:2,182,101	T/G	—	likely pathogenic
rs121918101	11:2,182,102	G/C	missense variant	uncertain significance
rs2133676747	11:2,182,107	C/A	—	likely pathogenic
rs80356664	11:2,182,108	C/T	missense variant	pathogenic
rs2133676771	11:2,182,111	A/C	—	uncertain significance
rs121908272	11:2,182,117	G/C	—	uncertain significance
rs80356663	11:2,182,131	G/A	missense variant	pathogenic
rs375371953	11:2,182,136	G/A	—	conflicting classifications of pathogenicity
rs11564720	11:2,182,139	T/C	—	conflicting classifications of pathogenicity
rs151134873	11:2,182,154	G/C	—	likely benign
rs2495757450	11:2,182,173	A/T	—	uncertain significance
rs1564912403	11:2,182,176	G/C	—	likely risk allele
rs372122432	11:2,182,177	G/A	—	uncertain significance
rs121908259	11:2,182,185	C/T	—	conflicting classifications of pathogenicity
rs121908278	11:2,182,186	G/A	missense variant	likely risk allele
rs1451696290	11:2,182,187	C/T	—	uncertain significance
rs397515521	11:2,182,199	C/T	missense variant	uncertain significance
rs757124361	11:2,182,201	T/C	—	pathogenic
rs689	11:2,182,224	A/T	splice region variant	benign
rs1554920985	11:2,182,288	C/T	—	conflicting classifications of pathogenicity
rs9282755	11:2,182,292	A/G	—	uncertain significance
rs1166335966	11:2,182,336	G/A	—	uncertain significance
rs3842741	11:2,182,360	T/C	—	benign

Showing 100 of 114 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.