Varaico: Literature-Extracted Genetic Variants

Gene:IRS1
Variant:p.A1071T

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.A1071T
c.3211G>A
Surrounding Variants
1 paper
NM_005544.3
p.P1066L
c.3197C>T
1 paper
NM_005544.3
p.P1066S
c.3196C>T
1 paper
NM_005544.3
p.G1065R
c.3193G>A
6 papers
NM_005544.3
p.P1079S
c.3235C>T
1 paper
NM_005544.3
p.N1080Y
c.3238A>T
1 paper
NM_005544.3
p.R1081C
c.3241C>T
1 paper
NM_005544.3
p.L1060fs
c.3178_3179fs
2 papers
NM_005544.3
p.S1057S
c.3171G>A
1 paper
NM_005544.3
p.A1085T
c.3253G>A
1 paper
NM_005544.3
p.H1056H
c.3168C>T
1 paper
NM_005544.3
p.K1086E
c.3256A>G
1 paper
NM_005544.3
p.R1089C
c.3265C>T
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."