Varaico: Literature-Extracted Genetic Variants

Gene:IRS1
Variant:p.K177Q

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.K177Q
c.529A>C
Surrounding Variants
1 paper
NM_005544.3
p.L173R
c.518T>G
1 paper
NM_005544.3
p.G172R
c.514G>C
1 paper
NM_005544.3
p.I182V
c.544A>G
1 paper
NM_005544.3
p.I182insFs
c.544_545ins5
1 paper
NM_005544.3
p.K171R
c.512A>G
2 papers
NM_005544.3
p.K171Q
c.511A>C
1 paper
NM_005544.3
p.Y183C
c.548A>G
9 papers
NM_005544.3
p.P170R
c.509C>G
1 paper
NM_005544.3
p.K169insFs
c.506dupA
1 paper
NM_005544.3
p.R184H
c.551G>A
2 papers
NM_005544.3
p.K169Q
c.505A>C
1 paper
NM_005544.3
p.L187delFs
c.559delG
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