Varaico: Literature-Extracted Genetic Variants

Gene:TAB2
Variant:p.P483delFs

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
2 papers
NM_001292034.3
p.P483delFs
c.1448delC
Surrounding Variants
2 papers
NM_001292034.3
p.P483fs
c.1447_1448fs
1 paper
NM_001292034.3
p.V481L
c.1441G>C
1 paper
NM_001292034.3
p.V481L
c.1441G>T
2 papers
NM_001292034.3
p.P483L
c.1448C>T
1 paper
NM_001292034.3
p.L487I
c.1459C>A
1 paper
NM_001292034.3
p.L491L
c.1473T>C
1 paper
NM_001292034.3
p.P494R
c.1481C>G
1 paper
NM_001292034.3
p.S469_P470delFs
c.1407_1408delTC
1 paper
NM_001292034.3
p.H496R
c.1487A>G
1 paper
NM_001292034.3
p.T467I
c.1400C>T
1 paper
NM_001292034.3
p.T467fs
c.1399_1400fs
4 papers
NM_001292034.3
p.T467fs
c.1399_1400fs
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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."