Varaico: Literature-Extracted Genetic Variants

Gene:BCL2
Variant:p.A131D

BCL2

1,079 papers

RefSeq Summary

This gene encodes an integral outer mitochondrial membrane protein that blocks the apoptotic death of some cells such as lymphocytes. Constitutive expression of BCL2, such as in the case of translocat...

Pfam Domains

BH4aa 7–32UCSCBcl-2 homology region 4
Bcl-2aa 97–195UCSCApoptosis regulator proteins, Bcl-2 family

Gene Aliases

HGNC Name

BCL2 apoptosis regulator

HGNC Alias Symbols

Bcl-2; PPP1R50

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
18 papers
NM_000633.3
p.A131D
c.392C>A
Surrounding Variants
27 papers
NM_000633.3
p.A131V
c.392C>T
8 papers
NM_000633.3
p.A131G
c.392C>G
6 papers
NM_000633.3
p.A131T
c.391G>A
1 paper
NM_000633.3
p.A131A
c.393C>T
1 paper
NM_000633.3
p.F130L
c.390T>G
2 papers
NM_000633.3
p.F130F
c.390T>C
1 paper
NM_000633.3
p.F130L
c.390T>A
2 papers
NM_000633.3
p.T132S
c.394A>T
2 papers
NM_000633.3
p.T132A
c.394A>G
1 paper
NM_000633.3
p.F130S
c.389T>C
1 paper
NM_000633.3
p.T132M
c.395C>T
1 paper
NM_000633.3
p.T132K
c.395C>A
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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."