Varaico: Literature-Extracted Genetic Variants

Gene:IRS2
Variant:p.H1130R

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.H1130R
c.3389A>G
Surrounding Variants
1 paper
NM_003749.3
p.P1129fs
c.3385_3386fs
1 paper
NM_003749.3
p.D1128insFs
c.3383_3384ins4
2 papers
NM_003749.3
p.G1132G
c.3396C>T
2 papers
NM_003749.3
p.A1133T
c.3397G>A
1 paper
NM_003749.3
p.K1134E
c.3400A>G
1 paper
NM_003749.3
p.P1126S
c.3376C>T
1 paper
NM_003749.3
p.R1137C
c.3409C>T
1 paper
NM_003749.3
p.R1137L
c.3410G>T
1 paper
NM_003749.3
p.R1137H
c.3410G>A
1 paper
NM_003749.3
p.A1138T
c.3412G>A
1 paper
NM_003749.3
p.Q1122P
c.3365A>C
1 paper
NM_003749.3
p.D1139fs
c.3415_3416fs
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