Varaico: Literature-Extracted Genetic Variants

Gene:TAB2
Variant:p.A535Splc

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
1 paper
NM_001292034.3
p.A535Splc
c.1604-1G>A
Surrounding Variants
6 papers
NM_001292034.3
p.Q540R
c.1619A>G
1 paper
NM_001292034.3
p.E545K
c.1633G>A
3 papers
NM_001292034.3
p.R546*
c.1636C>T
1 paper
NM_001292034.3
p.L551L
c.1653T>G
1 paper
NM_001292034.3
p.Q554*
c.1660C>T
1 paper
NM_001292034.3
p.K562R
c.1685A>G
7 papers
NM_001292034.3
p.E569K
c.1705G>A
1 paper
NM_001292034.3
p.T573I
c.1718C>T
1 paper
NM_001292034.3
p.R576S
c.1726C>A
2 papers
NM_001292034.3
p.R576H
c.1727G>A
1 paper
NM_001292034.3
p.R579I
c.1736G>T
1 paper
NM_001292034.3
p.P587S
c.1759C>T
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