Varaico: Literature-Extracted Genetic Variants

Gene:BAX
Variant:p.Q52*

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.Q52*
c.154C>T
Surrounding Variants
1 paper
NM_138761.4
p.D53delFs
c.159delT
1 paper
NM_138761.4
p.V50fs
c.148_149fs
1 paper
NM_138761.4
p.D48A
c.143A>C
1 paper
NM_138761.4
p.L47Q
c.140T>A
1 paper
NM_138761.4
p.K57R
c.170A>G
1 paper
NM_138761.4
p.K58*
c.172A>T
1 paper
NM_138761.4
p.K58R
c.173A>G
1 paper
NM_138761.4
p.L45L
c.133C>T
1 paper
NM_138761.4
p.E44K
c.130G>A
2 papers
NM_138761.4
p.E44Q
c.130G>C
1 paper
NM_138761.4
p.E61K
c.181G>A
1 paper
NM_138761.4
p.A42T
c.124G>A
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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."