Varaico: Literature-Extracted Genetic Variants

Gene:IRS1
Variant:p.R116H

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.R116H
c.347G>A
Surrounding Variants
1 paper
NM_005544.3
p.L113L
c.337C>T
1 paper
NM_005544.3
p.L110V
c.328C>G
1 paper
NM_005544.3
p.Y107H
c.319T>C
1 paper
NM_005544.3
p.S105_W106insFs
c.315_316insC
1 paper
NM_005544.3
p.A129S
c.385G>T
1 paper
NM_005544.3
p.Q103R
c.308A>G
1 paper
NM_005544.3
p.G131V
c.392G>T
1 paper
NM_005544.3
p.G131G
c.393T>C
2 papers
NM_005544.3
p.G132D
c.395G>A
1 paper
NM_005544.3
p.G133delFs
c.398delC
1 paper
NM_005544.3
p.A97V
c.290C>T
1 paper
NM_005544.3
p.G138S
c.412G>A
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