Varaico: Literature-Extracted Genetic Variants

Gene:IRS2
Variant:p.H1328R

IRS2

613 papers

RefSeq Summary

This gene encodes the insulin receptor substrate 2, a cytoplasmic signaling molecule that mediates effects of insulin, insulin-like growth factor 1, and other cytokines by acting as a molecular adapto...

Pfam Domains

PHaa 31–144UCSCPH domain
IRSaa 200–295UCSCPTB domain (IRS-1 type)

Gene Aliases

HGNC Name

insulin receptor substrate 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003749.3
p.H1328R
c.3983A>G
Surrounding Variants
1 paper
NM_003749.3
p.T1334T
c.4002C>A
1 paper
NM_003749.3
p.Y1320*
c.3960C>G
1 paper
NM_003749.3
p.Y1320*
c.3960C>A
1 paper
NM_003749.3
p.E1338Splc
c.4012+2T>G
1 paper
NM_003749.3
p.P1316T
c.3946C>A
1 paper
NM_003749.3
p.A1313D
c.3938C>A
1 paper
NM_003749.3
p.G1312S
c.3934G>A
1 paper
NM_003749.3
p.P1309fs
c.3925_3926fs
1 paper
NM_003749.3
p.C1306W
c.3918C>G
2 papers
NM_003749.3
p.C1306G
c.3916T>G
1 paper
NM_003749.3
p.G1304D
c.3911G>A
1 paper
NM_003749.3
p.T1302I
c.3905C>T
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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."