Varaico: Literature-Extracted Genetic Variants

Gene:TAB3
Variant:p.L559I

TAB3

90 papers

RefSeq Summary

The product of this gene functions in the NF-kappaB signal transduction pathway. The encoded protein, and the similar and functionally redundant protein MAP3K7IP2/TAB2, forms a ternary complex with th...

Pfam Domains

CUEaa 9–50UCSCCUE domain

Gene Aliases

HGNC Name

TGF-beta activated kinase 1 (MAP3K7) binding protein 3

HGNC Previous Symbol

MAP3K7IP3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152787.5
p.L559I
c.1675C>A
Surrounding Variants
1 paper
NM_152787.5
p.R560I
c.1679G>T
1 paper
NM_152787.5
p.Q556R
c.1667A>G
1 paper
NM_152787.5
p.K537_E539del3
c.1609_1616del9
2 papers
NM_152787.5
p.E539K
c.1615G>A
1 paper
NM_152787.5
p.E538G
c.1613A>G
1 paper
NM_152787.5
p.A530T
c.1588G>A
1 paper
NM_152787.5
p.S504I
c.1511G>T
1 paper
NM_152787.5
p.Q502H
c.1506G>T
1 paper
NM_152787.5
p.Q502H
c.1506G>C
2 papers
NM_152787.5
p.G497E
c.1490G>A
1 paper
NM_152787.5
p.E495Q
c.1483G>C
1 paper
NM_152787.5
p.I489T
c.1466T>C
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