Varaico: Literature-Extracted Genetic Variants

Gene:IRS2
Variant:p.R1144fs

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.R1144fs
c.3430_3431fs
Surrounding Variants
1 paper
NM_003749.3
p.R1144C
c.3430C>T
1 paper
NM_003749.3
p.G1143_R1144Fs
c.3429_3431delinsTAFs
1 paper
NM_003749.3
p.G1143fs
c.3427_3428fs
1 paper
NM_003749.3
p.G1143delFs
c.3428delC
1 paper
NM_003749.3
p.G1142V
c.3425G>T
1 paper
NM_003749.3
p.R1145R
c.3435C>T
2 papers
NM_003749.3
p.G1142W
c.3424G>T
1 paper
NM_003749.3
p.G1142R
c.3424G>C
1 paper
NM_003749.3
p.G1142R
c.3424G>A
1 paper
NM_003749.3
p.P1140L
c.3419C>T
1 paper
NM_003749.3
p.D1139_S1148delFs
c.3416_3444del29
1 paper
NM_003749.3
p.D1139fs
c.3415_3416fs
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."