Varaico: Literature-Extracted Genetic Variants

Gene:IRS2
Variant:p.S78N

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.S78N
c.233G>A
Surrounding Variants
1 paper
NM_003749.3
p.Y76del1
c.226_227delGTA
1 paper
NM_003749.3
p.Y76*
c.228C>G
1 paper
NM_003749.3
p.Y76*
c.228C>A
1 paper
NM_003749.3
p.Y76_E77insCCA
c.226_230ins9
1 paper
NM_003749.3
p.E79_K81del3
c.235_242del9
1 paper
NM_003749.3
p.L73R
c.218T>G
7 papers
NM_003749.3
p.S84_K85insAAC
c.250_254ins9
1 paper
NM_003749.3
p.S84N
c.251G>A
1 paper
NM_003749.3
p.E79_S84del6
c.235_251del18
1 paper
NM_003749.3
p.Q69H
c.207A>C
2 papers
NM_003749.3
p.Q69E
c.205C>G
1 paper
NM_003749.3
p.G87delFs
c.259_260delCC
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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."