Varaico: Literature-Extracted Genetic Variants

Gene:IRS1

IRS1

686 papers

RefSeq 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...

Pfam Domains

PHaa 8–115UCSCPH domain
IRSaa 166–261UCSCPTB domain (IRS-1 type)

Gene Aliases

HGNC Name

insulin receptor substrate 1

HGNC Alias Symbol

HIRS-1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 537 variants
40 papers
NM_005544.3
p.G971R
c.2911G>A
38 papers
NM_005544.3
p.G971R
c.2911G>C
15 papers
NM_005544.3
p.M209T
c.626T>C
15 papers
NM_005544.3
p.S892G
c.2674A>G
13 papers
NM_005544.3
p.A512P
c.1534G>C
11 papers
NM_005544.3
p.G818R
c.2452G>C
11 papers
NM_005544.3
p.G818R
c.2452G>A
9 papers
NM_005544.3
p.P170R
c.509C>G
9 papers
NM_005544.3
p.G597delFs
c.1791delC
9 papers
NM_005544.3
p.T608R
c.1823C>G
8 papers
NM_005544.3
p.G597insFs
c.1791dupG
7 papers
NM_005544.3
p.S686del1
c.2056_2057delGCT
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."