Varaico: Literature-Extracted Genetic Variants

Gene:BAX
Variant:p.R34*

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
Selected Variant
1 paper
NM_138761.4
p.R34*
c.100C>T
Surrounding Variants
1 paper
NM_138761.4
p.R34Q
c.101G>A
2 papers
NM_138761.4
p.D33A
c.98A>C
1 paper
NM_138761.4
p.Q32R
c.95A>G
1 paper
NM_138761.4
p.I31I
c.93C>T
1 paper
NM_138761.4
p.G36A
c.107G>C
1 paper
NM_138761.4
p.G36G
c.108G>A
3 papers
NM_138761.4
p.R37*
c.109C>T
1 paper
NM_138761.4
p.F30L
c.90C>A
1 paper
NM_138761.4
p.F30L
c.90C>G
1 paper
NM_138761.4
p.R37Q
c.110G>A
6 papers
NM_138761.4
p.M38fs
c.112_113fs
1 paper
NM_138761.4
p.M38fs
c.112_113fs
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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."