Varaico: Literature-Extracted Genetic Variants

Gene:BCL10
Variant:p.I46fs

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
13 papers
NM_003921.5
p.I46fs
c.136_137fs
Surrounding Variants
2 papers
NM_003921.5
p.I46insFs
c.136dupA
17 papers
NM_003921.5
p.I46delFs
c.136delT
1 paper
NM_003921.5
p.K45_I46delFs
c.135_136delTT
1 paper
NM_003921.5
p.I46L
c.136A>T
9 papers
NM_003921.5
p.I46fs
c.136_137fs
1 paper
NM_003921.5
p.K45fs
c.133_134fs
1 paper
NM_003921.5
p.R49*
c.145A>T
1 paper
NM_003921.5
p.R49G
c.145A>G
1 paper
NM_003921.5
p.A43fs
c.127_128fs
2 papers
NM_003921.5
p.A43V
c.128C>T
1 paper
NM_003921.5
p.A43E
c.128C>A
1 paper
NM_003921.5
p.E50A
c.149A>C
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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."