Varaico: Literature-Extracted Genetic Variants

Gene:BAX
Variant:p.Q7H

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.Q7H
c.21G>C
Surrounding Variants
1 paper
NM_138761.4
p.Q7H
c.21G>T
1 paper
NM_138761.4
p.P8R
c.23C>G
1 paper
NM_138761.4
p.Q7delFs
c.19delC
2 papers
NM_138761.4
p.R9K
c.26G>A
1 paper
NM_138761.4
p.G10D
c.29G>A
1 paper
NM_138761.4
p.G10A
c.29G>C
1 paper
NM_138761.4
p.G10V
c.29G>T
1 paper
NM_138761.4
p.S4S
c.12C>T
1 paper
NM_138761.4
p.G11fs
c.31_32fs
1 paper
NM_138761.4
p.G11W
c.31G>T
4 papers
NM_138761.4
p.G11E
c.32G>A
1 paper
NM_138761.4
p.G11V
c.32G>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."