Varaico: Literature-Extracted Genetic Variants

Gene:TAB2
Variant:p.R347*

TAB2

191 papers

RefSeq Summary

The protein encoded by this gene is an activator of MAP3K7/TAK1, which is required for for the IL-1 induced activation of nuclear factor kappaB and MAPK8/JNK. This protein forms a kinase complex with ...

Pfam Domains

CUEaa 9–50UCSCCUE domain

Gene Aliases

HGNC Name

TGF-beta activated kinase 1 (MAP3K7) binding protein 2

HGNC Previous Symbol

MAP3K7IP2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_001292034.3
p.R347*
c.1039C>T
Surrounding Variants
1 paper
NM_001292034.3
p.S349_S350delFs
c.1047_1050del4
1 paper
NM_001292034.3
p.T351I
c.1052C>T
1 paper
NM_001292034.3
p.R342H
c.1025G>A
1 paper
NM_001292034.3
p.S352delFs
c.1056delC
1 paper
NM_001292034.3
p.K340_L341delFs
c.1020_1021delAC
1 paper
NM_001292034.3
p.S354*
c.1061C>A
1 paper
NM_001292034.3
p.S354*
c.1061C>G
1 paper
NM_001292034.3
p.K329R
c.986A>G
1 paper
NM_001292034.3
p.P365P
c.1095C>T
3 papers
NM_001292034.3
p.Q325*
c.973C>T
1 paper
NM_001292034.3
p.R322G
c.964C>G
2 papers
NM_001292034.3
p.R322*
c.964C>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."