Varaico: Literature-Extracted Genetic Variants

Gene:IRS1
Variant:p.A97V

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.A97V
c.290C>T
Surrounding Variants
1 paper
NM_005544.3
p.A94T
c.280G>A
1 paper
NM_005544.3
p.F93_A94insP
c.277_281ins3
1 paper
NM_005544.3
p.Q103R
c.308A>G
2 papers
NM_005544.3
p.D90D
c.270C>T
1 paper
NM_005544.3
p.D90A
c.269A>C
1 paper
NM_005544.3
p.D90N
c.268G>A
1 paper
NM_005544.3
p.S105_W106insFs
c.315_316insC
1 paper
NM_005544.3
p.Y107H
c.319T>C
1 paper
NM_005544.3
p.A85A
c.255T>G
1 paper
NM_005544.3
p.L110V
c.328C>G
1 paper
NM_005544.3
p.L113L
c.337C>T
1 paper
NM_005544.3
p.K79N
c.237G>T
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