Varaico: Literature-Extracted Genetic Variants

Gene:BAX
Variant:p.I66_G67del2

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.I66_G67del2
c.196_200del6
Surrounding Variants
1 paper
NM_138761.4
p.R65L
c.194G>T
1 paper
NM_138761.4
p.K64R
c.191A>G
3 papers
NM_138761.4
p.G67R
c.199G>A
3 papers
NM_138761.4
p.G67R
c.199G>C
1 paper
NM_138761.4
p.G67A
c.200G>C
1 paper
NM_138761.4
p.D68A
c.203A>C
8 papers
NM_138761.4
p.C62S
c.185G>C
1 paper
NM_138761.4
p.C62insFs
c.185_186insA
8 papers
NM_138761.4
p.C62S
c.184T>A
1 paper
NM_138761.4
p.E61K
c.181G>A
1 paper
NM_138761.4
p.D71D
c.213C>T
1 paper
NM_138761.4
p.S72I
c.215G>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."