Varaico: Literature-Extracted Genetic Variants

Gene:IRS1
Variant:p.I223T

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.I223T
c.668T>C
Surrounding Variants
2 papers
NM_005544.3
p.E224K
c.670G>A
1 paper
NM_005544.3
p.V225M
c.673G>A
1 paper
NM_005544.3
p.F221Y
c.662T>A
1 paper
NM_005544.3
p.G226V
c.677G>T
1 paper
NM_005544.3
p.F220I
c.658T>A
1 paper
NM_005544.3
p.R227S
c.679C>A
1 paper
NM_005544.3
p.S217L
c.650C>T
1 paper
NM_005544.3
p.S217W
c.650C>G
4 papers
NM_005544.3
p.A229delFs
c.686_687delGG
1 paper
NM_005544.3
p.V230_T231insFs
c.690_691insC
1 paper
NM_005544.3
p.H216Y
c.646C>T
2 papers
NM_005544.3
p.H216D
c.646C>G
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