Varaico: Literature-Extracted Genetic Variants

Gene:IRS1
Variant:p.G470V

IRS1

686 papers

RefSeq Summary

This gene encodes a protein which is phosphorylated by insulin receptor tyrosine kinase. Mutations in this gene are associated with type II diabetes and susceptibility to insulin resistance. [provided...

Pfam Domains

PHaa 8–115UCSCPH domain
IRSaa 166–261UCSCPTB domain (IRS-1 type)

Gene Aliases

HGNC Name

insulin receptor substrate 1

HGNC Alias Symbol

HIRS-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_005544.3
p.G470V
c.1409G>T
Surrounding Variants
1 paper
NM_005544.3
p.G469A
c.1406G>C
1 paper
NM_005544.3
p.K471M
c.1412A>T
1 paper
NM_005544.3
p.M468I
c.1404G>T
1 paper
NM_005544.3
p.M468I
c.1404G>C
1 paper
NM_005544.3
p.M468I
c.1404G>A
1 paper
NM_005544.3
p.Y465C
c.1394A>G
1 paper
NM_005544.3
p.N464I
c.1391A>T
1 paper
NM_005544.3
p.T477T
c.1431C>T
1 paper
NM_005544.3
p.A478V
c.1433C>T
1 paper
NM_005544.3
p.P479S
c.1435C>T
1 paper
NM_005544.3
p.N480N
c.1440C>T
1 paper
NM_005544.3
p.E459K
c.1375G>A
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