Varaico: Literature-Extracted Genetic Variants

Gene:IRS1
Variant:p.G40fs

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.G40fs
c.118_119fs
Surrounding Variants
1 paper
NM_005544.3
p.G40delFs
c.119delC
1 paper
NM_005544.3
p.E37K
c.109G>A
1 paper
NM_005544.3
p.S36S
c.108C>T
1 paper
NM_005544.3
p.A35A
c.105C>A
1 paper
NM_005544.3
p.Y46F
c.137A>T
2 papers
NM_005544.3
p.Y47C
c.140A>G
1 paper
NM_005544.3
p.R33C
c.97C>T
1 paper
NM_005544.3
p.E50K
c.148G>A
2 papers
NM_005544.3
p.K52del1
c.154_155delCTT
5 papers
NM_005544.3
p.R28C
c.82C>T
1 paper
NM_005544.3
p.R54W
c.160C>T
1 paper
NM_005544.3
p.H26Y
c.76C>T
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