Varaico: Literature-Extracted Genetic Variants

Gene:BAX

BAX

355 papers

RefSeq Summary

The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of ...

Pfam Domains

Bcl-2aa 63–158UCSCApoptosis regulator proteins, Bcl-2 family

Gene Aliases

HGNC Name

BCL2 associated X, apoptosis regulator

HGNC Alias Symbol

BCL2L4

Papers
RefSeq ID
Protein change
DNA change
1–12 of 235 variants
15 papers
NM_138761.4
p.E41delFs
c.121delG
12 papers
NM_138761.4
p.E41fs
c.121_122fs
11 papers
NM_138761.4
p.E41insFs
c.121dupG
9 papers
NM_138761.4
p.E41fs
c.121_122fs
8 papers
NM_138761.4
p.C62S
c.184T>A
8 papers
NM_138761.4
p.C62S
c.185G>C
7 papers
NM_138761.4
p.C126S
c.376T>A
7 papers
NM_138761.4
p.C126S
c.377G>C
6 papers
NM_138761.4
p.M38fs
c.112_113fs
4 papers
NM_138761.4
p.G11E
c.32G>A
4 papers
NM_138761.4
p.K21E
c.61A>G
4 papers
NM_138761.4
p.R78Splc
c.233+14A>G
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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."