Varaico: Literature-Extracted Genetic Variants

Gene:IRS1
Variant:p.A76G

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.A76G
c.227C>G
Surrounding Variants
1 paper
NM_005544.3
p.A76fs
c.226_227fs
1 paper
NM_005544.3
p.D77V
c.230A>T
1 paper
NM_005544.3
p.R75W
c.223C>T
1 paper
NM_005544.3
p.K79*
c.235A>T
1 paper
NM_005544.3
p.K79N
c.237G>T
1 paper
NM_005544.3
p.K79N
c.237G>C
1 paper
NM_005544.3
p.C69S
c.206G>C
1 paper
NM_005544.3
p.C69G
c.205T>G
1 paper
NM_005544.3
p.C69R
c.205T>C
1 paper
NM_005544.3
p.C69S
c.205T>A
4 papers
NM_005544.3
p.S68R
c.202A>C
1 paper
NM_005544.3
p.A85A
c.255T>G
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