Varaico: Literature-Extracted Genetic Variants

Gene:IRS1
Variant:p.G332R

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
1 paper
NM_005544.3
p.G332R
c.994G>C
Surrounding Variants
1 paper
NM_005544.3
p.T335I
c.1004C>T
1 paper
NM_005544.3
p.M336T
c.1007T>C
1 paper
NM_005544.3
p.R327R
c.981C>T
1 paper
NM_005544.3
p.R327C
c.979C>T
1 paper
NM_005544.3
p.R338C
c.1012C>T
1 paper
NM_005544.3
p.R325insFs
c.974dupG
1 paper
NM_005544.3
p.R325C
c.973C>T
1 paper
NM_005544.3
p.A340P
c.1018G>C
2 papers
NM_005544.3
p.S341P
c.1021T>C
1 paper
NM_005544.3
p.S323fs
c.967_968fs
1 paper
NM_005544.3
p.S341L
c.1022C>T
1 paper
NM_005544.3
p.G322insFs
c.965_966insC
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