Varaico: Literature-Extracted Genetic Variants

Gene:IRS2
Variant:p.R46S

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.R46S
c.136C>A
Surrounding Variants
1 paper
NM_003749.3
p.R46H
c.137G>A
1 paper
NM_003749.3
p.G43S
c.127G>A
1 paper
NM_003749.3
p.G52E
c.155G>A
1 paper
NM_003749.3
p.K39T
c.116A>C
1 paper
NM_003749.3
p.P53L
c.158C>T
1 paper
NM_003749.3
p.G54V
c.161G>T
1 paper
NM_003749.3
p.A55P
c.163G>C
1 paper
NM_003749.3
p.A55T
c.163G>A
1 paper
NM_003749.3
p.A55V
c.164C>T
1 paper
NM_003749.3
p.G56V
c.167G>T
1 paper
NM_003749.3
p.G35G
c.105C>A
1 paper
NM_003749.3
p.E59insFs
c.175dupG
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