Varaico: Literature-Extracted Genetic Variants

Gene:IRS2
Variant:p.A512P

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
2 papers
NM_003749.3
p.A512P
c.1534G>C
Surrounding Variants
6 papers
NM_003749.3
p.A512T
c.1534G>A
1 paper
NM_003749.3
p.A512A
c.1536C>T
1 paper
NM_003749.3
p.G508S
c.1522G>A
1 paper
NM_003749.3
p.H516fs
c.1546_1547fs
1 paper
NM_003749.3
p.S506G
c.1516A>G
1 paper
NM_003749.3
p.P521L
c.1562C>T
1 paper
NM_003749.3
p.E522E
c.1566G>A
1 paper
NM_003749.3
p.D501ins2
c.1502_1503ins6
1 paper
NM_003749.3
p.D501ins2
c.1502_1503ins6
1 paper
NM_003749.3
p.L500V
c.1498C>G
3 papers
NM_003749.3
p.I524V
c.1570A>G
1 paper
NM_003749.3
p.A525V
c.1574C>T
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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."