Varaico: Literature-Extracted Genetic Variants

Gene:IRS1
Variant:p.H216D

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.H216D
c.646C>G
Surrounding Variants
1 paper
NM_005544.3
p.H216Y
c.646C>T
1 paper
NM_005544.3
p.G215R
c.643G>C
1 paper
NM_005544.3
p.S217L
c.650C>T
1 paper
NM_005544.3
p.S217W
c.650C>G
1 paper
NM_005544.3
p.C214Y
c.641G>A
1 paper
NM_005544.3
p.R213H
c.638G>A
1 paper
NM_005544.3
p.R213G
c.637C>G
1 paper
NM_005544.3
p.F220I
c.658T>A
1 paper
NM_005544.3
p.F221Y
c.662T>A
15 papers
NM_005544.3
p.M209T
c.626T>C
1 paper
NM_005544.3
p.I223T
c.668T>C
2 papers
NM_005544.3
p.E224K
c.670G>A
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