Varaico: Literature-Extracted Genetic Variants

Gene:IRS1
Variant:p.T231M

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.T231M
c.692C>T
Surrounding Variants
1 paper
NM_005544.3
p.V230_T231insFs
c.690_691insC
4 papers
NM_005544.3
p.A229delFs
c.686_687delGG
1 paper
NM_005544.3
p.G234R
c.700G>C
1 paper
NM_005544.3
p.G234R
c.700G>A
1 paper
NM_005544.3
p.G234G
c.702G>C
3 papers
NM_005544.3
p.G234G
c.702G>A
1 paper
NM_005544.3
p.E235K
c.703G>A
1 paper
NM_005544.3
p.R227S
c.679C>A
1 paper
NM_005544.3
p.G226V
c.677G>T
1 paper
NM_005544.3
p.V225M
c.673G>A
2 papers
NM_005544.3
p.E224K
c.670G>A
1 paper
NM_005544.3
p.I223T
c.668T>C
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