Varaico: Literature-Extracted Genetic Variants

Gene:BCL2A1
Variant:p.P110Q

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
1 paper
NM_004049.4
p.P110Q
c.329C>A
Surrounding Variants
1 paper
NM_004049.4
p.P110L
c.329C>T
1 paper
NM_004049.4
p.P110fs
c.328_329fs
1 paper
NM_004049.4
p.P110delFs
c.329delG
1 paper
NM_004049.4
p.D113fs
c.337_338fs
1 paper
NM_004049.4
p.D113delFs
c.338delT
1 paper
NM_004049.4
p.E117D
c.351G>T
1 paper
NM_004049.4
p.E117D
c.351G>C
1 paper
NM_004049.4
p.Y120C
c.359A>G
1 paper
NM_004049.4
p.L99L
c.297C>T
1 paper
NM_004049.4
p.L99R
c.296T>G
1 paper
NM_004049.4
p.A123V
c.368C>T
1 paper
NM_004049.4
p.A123delFs
c.367delC
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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."