Varaico: Literature-Extracted Genetic Variants

Gene:IRS1
Variant:p.P22S

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.P22S
c.64C>T
Surrounding Variants
1 paper
NM_005544.3
p.R20H
c.59G>A
1 paper
NM_005544.3
p.S24R
c.70A>C
1 paper
NM_005544.3
p.M25T
c.74T>C
2 papers
NM_005544.3
p.Y18F
c.53A>T
1 paper
NM_005544.3
p.H26Y
c.76C>T
5 papers
NM_005544.3
p.R28C
c.82C>T
1 paper
NM_005544.3
p.D12A
c.35A>C
1 paper
NM_005544.3
p.S11*
c.32C>A
1 paper
NM_005544.3
p.R33C
c.97C>T
1 paper
NM_005544.3
p.G9S
c.25G>A
1 paper
NM_005544.3
p.A35A
c.105C>A
1 paper
NM_005544.3
p.D8V
c.23A>T
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