Varaico: Literature-Extracted Genetic Variants

Gene:IRS1
Variant:p.R286insFs

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.R286insFs
c.858dupG
Surrounding Variants
2 papers
NM_005544.3
p.N291S
c.872A>G
2 papers
NM_005544.3
p.V282A
c.845T>C
1 paper
NM_005544.3
p.P292A
c.874C>G
1 paper
NM_005544.3
p.P293S
c.877C>T
1 paper
NM_005544.3
p.P293L
c.878C>T
1 paper
NM_005544.3
p.P294P
c.882C>T
2 papers
NM_005544.3
p.P294_S295delFs
c.882_883delTG
1 paper
NM_005544.3
p.N278N
c.834C>T
1 paper
NM_005544.3
p.Q296H
c.888G>T
1 paper
NM_005544.3
p.Q296H
c.888G>C
2 papers
NM_005544.3
p.V297G
c.890T>G
1 paper
NM_005544.3
p.G298W
c.892G>T
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