Varaico: Literature-Extracted Genetic Variants

Gene:IRS2
Variant:p.T1243I

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.T1243I
c.3728C>T
Surrounding Variants
1 paper
NM_003749.3
p.A1245S
c.3733G>T
1 paper
NM_003749.3
p.G1246S
c.3736G>A
1 paper
NM_003749.3
p.P1238S
c.3712C>T
1 paper
NM_003749.3
p.S1237L
c.3710C>T
1 paper
NM_003749.3
p.G1223_G1235del13
c.3667_3704del39
2 papers
NM_003749.3
p.L1251V
c.3751C>G
1 paper
NM_003749.3
p.S1234I
c.3701G>T
2 papers
NM_003749.3
p.G1233V
c.3698G>T
1 paper
NM_003749.3
p.A1255S
c.3763G>T
3 papers
NM_003749.3
p.A1255T
c.3763G>A
1 paper
NM_003749.3
p.G1230R
c.3688G>C
3 papers
NM_003749.3
p.G1230S
c.3688G>A
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