Varaico: Literature-Extracted Genetic Variants

Gene:IRS2
Variant:p.Q1054*

IRS2

613 papers

RefSeq Summary

This gene encodes the insulin receptor substrate 2, a cytoplasmic signaling molecule that mediates effects of insulin, insulin-like growth factor 1, and other cytokines by acting as a molecular adapto...

Pfam Domains

PHaa 31–144UCSCPH domain
IRSaa 200–295UCSCPTB domain (IRS-1 type)

Gene Aliases

HGNC Name

insulin receptor substrate 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003749.3
p.Q1054*
c.3160C>T
Surrounding Variants
1 paper
NM_003749.3
p.A1053T
c.3157G>A
1 paper
NM_003749.3
p.P1056Q
c.3167C>A
1 paper
NM_003749.3
p.G1057R
c.3169G>C
1 paper
NM_003749.3
p.G1057A
c.3170G>C
143 papers
NM_003749.3
p.G1057D
c.3170G>A
1 paper
NM_003749.3
p.A1058P
c.3172G>C
1 paper
NM_003749.3
p.S1048L
c.3143C>T
1 paper
NM_003749.3
p.P1046insFs
c.3138dupC
2 papers
NM_003749.3
p.S1061L
c.3182C>T
1 paper
NM_003749.3
p.R1043C
c.3127C>T
1 paper
NM_003749.3
p.R1043S
c.3127C>A
1 paper
NM_003749.3
p.T1066S
c.3196A>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."