Varaico: Literature-Extracted Genetic Variants

Gene:BCL2A1
Variant:p.E80K

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
Selected Variant
2 papers
NM_004049.4
p.E80K
c.238G>A
Surrounding Variants
10 papers
NM_004049.4
p.G82D
c.245G>A
1 paper
NM_004049.4
p.E76Q
c.226G>C
1 paper
NM_004049.4
p.I84N
c.251T>A
1 paper
NM_004049.4
p.M75R
c.224T>G
1 paper
NM_004049.4
p.W86R
c.256T>C
1 paper
NM_004049.4
p.W86R
c.256T>A
1 paper
NM_004049.4
p.T69I
c.206C>T
1 paper
NM_004049.4
p.E96K
c.286G>A
1 paper
NM_004049.4
p.E96V
c.287A>T
1 paper
NM_004049.4
p.L99R
c.296T>G
1 paper
NM_004049.4
p.L99L
c.297C>T
1 paper
NM_004049.4
p.P110L
c.329C>T
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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."