Varaico: Literature-Extracted Genetic Variants

Gene:BAX
Variant:p.M1V

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.M1V
c.1A>G
Surrounding Variants
2 papers
NM_138761.4
p.M1fs
c.1_2fs
2 papers
NM_138761.4
p.M1insFs
c.2_3insT
2 papers
NM_138761.4
p.M1L
c.1A>C
2 papers
NM_138761.4
p.M1L
c.1A>T
1 paper
NM_138761.4
p.M1T
c.2T>C
2 papers
NM_138761.4
p.M1delFs
c.3delG
1 paper
NM_138761.4
p.M1I
c.3G>A
1 paper
NM_138761.4
p.M1I
c.3G>C
1 paper
NM_138761.4
p.M1I
c.3G>T
1 paper
NM_138761.4
p.G3insFs
c.7dupG
1 paper
NM_138761.4
p.G3G
c.9G>T
1 paper
NM_138761.4
p.S4S
c.12C>T
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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."