Varaico: Literature-Extracted Genetic Variants

Gene:BAX
Variant:p.G138D

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.G138D
c.413G>A
Surrounding Variants
2 papers
NM_138761.4
p.G138A
c.413G>C
1 paper
NM_138761.4
p.T140A
c.418A>G
1 paper
NM_138761.4
p.T140S
c.418A>T
1 paper
NM_138761.4
p.T135A
c.403A>G
1 paper
NM_138761.4
p.R134S
c.402A>C
1 paper
NM_138761.4
p.R134S
c.402A>T
1 paper
NM_138761.4
p.D142A
c.425A>C
1 paper
NM_138761.4
p.R145W
c.433C>T
1 paper
NM_138761.4
p.E131A
c.392A>C
1 paper
NM_138761.4
p.E131G
c.392A>G
1 paper
NM_138761.4
p.R145Q
c.434G>A
1 paper
NM_138761.4
p.E146A
c.437A>C
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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."