Varaico: Literature-Extracted Genetic Variants

Gene:IRS2
Variant:p.L20H

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.L20H
c.59T>A
Surrounding Variants
1 paper
NM_003749.3
p.L20I
c.58C>A
1 paper
NM_003749.3
p.N22K
c.66C>G
1 paper
NM_003749.3
p.N22K
c.66C>A
1 paper
NM_003749.3
p.P18T
c.52C>A
1 paper
NM_003749.3
p.N23ins1
c.67_68insCCA
1 paper
NM_003749.3
p.N24H
c.70A>C
1 paper
NM_003749.3
p.G15A
c.44G>C
1 paper
NM_003749.3
p.N25N
c.75C>T
1 paper
NM_003749.3
p.N26ins1
c.76_77insCCA
1 paper
NM_003749.3
p.S14N
c.41G>A
1 paper
NM_003749.3
p.N26insFs
c.77dupA
1 paper
NM_003749.3
p.N27insFs
c.79dupA
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