Varaico: Literature-Extracted Genetic Variants

Gene:IRS1
Variant:p.K52del1

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.K52del1
c.154_155delCTT
Surrounding Variants
1 paper
NM_005544.3
p.R54W
c.160C>T
1 paper
NM_005544.3
p.E50K
c.148G>A
2 papers
NM_005544.3
p.S57*
c.170C>A
2 papers
NM_005544.3
p.Y47C
c.140A>G
1 paper
NM_005544.3
p.Y46F
c.137A>T
1 paper
NM_005544.3
p.P60T
c.178C>A
1 paper
NM_005544.3
p.P60fs
c.178_179fs
1 paper
NM_005544.3
p.K61*
c.181A>T
1 paper
NM_005544.3
p.R62P
c.185G>C
3 papers
NM_005544.3
p.S63S
c.189G>T
1 paper
NM_005544.3
p.P65T
c.193C>A
1 paper
NM_005544.3
p.G40fs
c.118_119fs
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."