Varaico: Literature-Extracted Genetic Variants

Gene:IRS1
Variant:p.G133delFs

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.G133delFs
c.398delC
Surrounding Variants
2 papers
NM_005544.3
p.G132D
c.395G>A
1 paper
NM_005544.3
p.G131G
c.393T>C
1 paper
NM_005544.3
p.G131V
c.392G>T
1 paper
NM_005544.3
p.G138S
c.412G>A
1 paper
NM_005544.3
p.A129S
c.385G>T
1 paper
NM_005544.3
p.S140S
c.420C>G
1 paper
NM_005544.3
p.G141S
c.421G>A
1 paper
NM_005544.3
p.L142_G143delFs
c.424_427del4
1 paper
NM_005544.3
p.G138_G143del0
c.414_428del15
1 paper
NM_005544.3
p.E147K
c.439G>A
1 paper
NM_005544.3
p.E147V
c.440A>T
1 paper
NM_005544.3
p.D148N
c.442G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."