Varaico: Literature-Extracted Genetic Variants

Gene:BCL10
Variant:p.E123Q

BCL10

264 papers

RefSeq Summary

This gene was identified by its translocation in a case of mucosa-associated lymphoid tissue (MALT) lymphoma. The protein encoded by this gene contains a caspase recruitment domain (CARD), and has bee...

Pfam Domains

CARDaa 18–102UCSCCaspase recruitment domain

Gene Aliases

HGNC Name

BCL10 immune signaling adaptor

HGNC Alias Symbols

CARMEN; CIPER; mE10; c-E10; CLAP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003921.5
p.E123Q
c.367G>C
Surrounding Variants
1 paper
NM_003921.5
p.C119*
c.357T>A
1 paper
NM_003921.5
p.K118E
c.352A>G
1 paper
NM_003921.5
p.A129S
c.385G>T
1 paper
NM_003921.5
p.G116R
c.346G>C
1 paper
NM_003921.5
p.G116R
c.346G>A
3 papers
NM_003921.5
p.T130M
c.389C>T
2 papers
NM_003921.5
p.G116Splc
c.347-5T>C
1 paper
NM_003921.5
p.N132S
c.395A>G
1 paper
NM_003921.5
p.N132K
c.396C>G
1 paper
NM_003921.5
p.N132K
c.396C>A
1 paper
NM_003921.5
p.L133F
c.397C>T
1 paper
NM_003921.5
p.S134A
c.400T>G
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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."