Varaico: Literature-Extracted Genetic Variants

Gene:BCL10
Variant:p.S219R

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.S219R
c.655A>C
Surrounding Variants
1 paper
NM_003921.5
p.S219R
c.657T>G
1 paper
NM_003921.5
p.S219R
c.657T>A
2 papers
NM_003921.5
p.S218F
c.653C>T
2 papers
NM_003921.5
p.E220*
c.658G>T
1 paper
NM_003921.5
p.E220K
c.658G>A
1 paper
NM_003921.5
p.N217_S218insFs
c.651_652insA
1 paper
NM_003921.5
p.E220delFs
c.658delC
1 paper
NM_003921.5
p.E220fs
c.658_659fs
1 paper
NM_003921.5
p.A216T
c.646G>A
1 paper
NM_003921.5
p.F222C
c.665T>G
1 paper
NM_003921.5
p.C215*
c.645T>A
1 paper
NM_003921.5
p.C215insFs
c.643_644ins5
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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."