Varaico: Literature-Extracted Genetic Variants

Gene:BAX
Variant:p.K21R

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
2 papers
NM_138761.4
p.K21R
c.62A>G
Surrounding Variants
4 papers
NM_138761.4
p.K21E
c.61A>G
1 paper
NM_138761.4
p.T22_G23delFs
c.66_67delAG
2 papers
NM_138761.4
p.G23_A24insFs
c.69_70insG
1 paper
NM_138761.4
p.G23R
c.67G>A
1 paper
NM_138761.4
p.G23_A24insFs
c.69_70insGC
1 paper
NM_138761.4
p.Q18H
c.54G>C
1 paper
NM_138761.4
p.A24fs
c.70_71fs
1 paper
NM_138761.4
p.A24D
c.71C>A
1 paper
NM_138761.4
p.A24G
c.71C>G
1 paper
NM_138761.4
p.A24V
c.71C>T
1 paper
NM_138761.4
p.L25fs
c.73_74fs
1 paper
NM_138761.4
p.E17K
c.49G>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."