Varaico: Literature-Extracted Genetic Variants

Gene:BAX
Variant:p.E131G

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.E131G
c.392A>G
Surrounding Variants
1 paper
NM_138761.4
p.E131A
c.392A>C
1 paper
NM_138761.4
p.P130L
c.389C>T
1 paper
NM_138761.4
p.P130A
c.388C>G
1 paper
NM_138761.4
p.P130S
c.388C>T
1 paper
NM_138761.4
p.V129A
c.386T>C
2 papers
NM_138761.4
p.K128R
c.383A>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.T135A
c.403A>G
1 paper
NM_138761.4
p.T127A
c.379A>G
7 papers
NM_138761.4
p.C126S
c.377G>C
7 papers
NM_138761.4
p.C126S
c.376T>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."