Varaico: Literature-Extracted Genetic Variants

Gene:IRS1
Variant:p.V204G

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.V204G
c.611T>G
Surrounding Variants
1 paper
NM_005544.3
p.V204L
c.610G>C
1 paper
NM_005544.3
p.A202G
c.605C>G
1 paper
NM_005544.3
p.L206fs
c.616_617fs
1 paper
NM_005544.3
p.A202T
c.604G>A
1 paper
NM_005544.3
p.Q207L
c.620A>T
1 paper
NM_005544.3
p.A201S
c.601G>T
2 papers
NM_005544.3
p.S199S
c.597G>A
15 papers
NM_005544.3
p.M209T
c.626T>C
1 paper
NM_005544.3
p.S199L
c.596C>T
1 paper
NM_005544.3
p.N198S
c.593A>G
1 paper
NM_005544.3
p.R213G
c.637C>G
1 paper
NM_005544.3
p.V195A
c.584T>C
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