Varaico: Literature-Extracted Genetic Variants

Gene:IRS2
Variant:p.S620F

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.S620F
c.1859C>T
Surrounding Variants
2 papers
NM_003749.3
p.A618V
c.1853C>T
1 paper
NM_003749.3
p.V623A
c.1868T>C
1 paper
NM_003749.3
p.A624T
c.1870G>A
1 paper
NM_003749.3
p.C616insFs
c.1846_1847insC
1 paper
NM_003749.3
p.Y625N
c.1873T>A
1 paper
NM_003749.3
p.Y625*
c.1875C>G
1 paper
NM_003749.3
p.Y625*
c.1875C>A
3 papers
NM_003749.3
p.Y628F
c.1883A>T
1 paper
NM_003749.3
p.E630K
c.1888G>A
2 papers
NM_003749.3
p.A609T
c.1825G>A
1 paper
NM_003749.3
p.S608C
c.1822A>T
1 paper
NM_003749.3
p.G607D
c.1820G>A
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