Varaico: Literature-Extracted Genetic Variants

Gene:IRS2
Variant:p.A125fs

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.A125fs
c.373_374fs
Surrounding Variants
1 paper
NM_003749.3
p.V124M
c.370G>A
1 paper
NM_003749.3
p.Q130L
c.389A>T
1 paper
NM_003749.3
p.E131K
c.391G>A
1 paper
NM_003749.3
p.Q132E
c.394C>G
1 paper
NM_003749.3
p.Q132L
c.395A>T
1 paper
NM_003749.3
p.W135C
c.405G>C
2 papers
NM_003749.3
p.A114V
c.341C>T
1 paper
NM_003749.3
p.A114T
c.340G>A
1 paper
NM_003749.3
p.R137H
c.410G>A
1 paper
NM_003749.3
p.L112L
c.334C>T
1 paper
NM_003749.3
p.L139P
c.416T>C
1 paper
NM_003749.3
p.T140T
c.420C>G
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