Varaico: Literature-Extracted Genetic Variants

Gene:IRS2
Variant:p.P320S

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.P320S
c.958C>T
Surrounding Variants
1 paper
NM_003749.3
p.S318T
c.953G>C
3 papers
NM_003749.3
p.H325R
c.974A>G
1 paper
NM_003749.3
p.T314S
c.940A>T
1 paper
NM_003749.3
p.A313S
c.937G>T
1 paper
NM_003749.3
p.A313T
c.937G>A
1 paper
NM_003749.3
p.S311A
c.931T>G
1 paper
NM_003749.3
p.V329F
c.985G>T
1 paper
NM_003749.3
p.V329L
c.985G>C
1 paper
NM_003749.3
p.V329I
c.985G>A
1 paper
NM_003749.3
p.S309L
c.926C>T
1 paper
NM_003749.3
p.Q307del1
c.919_920delTTG
1 paper
NM_003749.3
p.P332T
c.994C>A
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