Varaico: Literature-Extracted Genetic Variants

Gene:BCL2A1

BCL2A1

94 papers

RefSeq Summary

This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators that are involved in a wide variety of cell...

Pfam Domains

Bcl-2aa 37–140UCSCApoptosis regulator proteins, Bcl-2 family

Gene Aliases

HGNC Name

BCL2 related protein A1

HGNC Previous Symbol

HBPA1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 64 variants
10 papers
NM_004049.4
p.G82D
c.245G>A
8 papers
NM_004049.4
p.C19Y
c.56G>A
5 papers
NM_004049.4
p.N39K
c.117T>G
5 papers
NM_004049.4
p.N39K
c.117T>A
2 papers
NM_004049.4
p.E80K
c.238G>A
1 paper
NM_004049.4
p.M1T
c.2T>C
1 paper
NM_004049.4
p.D3N
c.7G>A
1 paper
NM_004049.4
p.I9V
c.25A>G
1 paper
NM_004049.4
p.V20I
c.58G>A
1 paper
NM_004049.4
p.V20V
c.60C>A
1 paper
NM_004049.4
p.L21V
c.61C>G
1 paper
NM_004049.4
p.P26P
c.78T>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."