Varaico: Literature-Extracted Genetic Variants

Gene:BAK1
Variant:p.A53V

BAK1

72 papers

RefSeq Summary

The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form oligomers or heterodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety...

Pfam Domains

Bcl-2aa 78–177UCSCApoptosis regulator proteins, Bcl-2 family

Gene Aliases

HGNC Name

BCL2 antagonist/killer 1

HGNC Previous Symbol

CDN1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001188.4
p.A53V
c.158C>T
Surrounding Variants
1 paper
NM_001188.4
p.P55insFs
c.164_165insA
1 paper
NM_001188.4
p.G51W
c.151G>T
1 paper
NM_001188.4
p.A56fs
c.166_167fs
1 paper
NM_001188.4
p.P58L
c.173C>T
1 paper
NM_001188.4
p.R42H
c.125G>A
1 paper
NM_001188.4
p.V34G
c.101T>G
1 paper
NM_001188.4
p.E32fs
c.94_95fs
1 paper
NM_001188.4
p.V27L
c.79G>T
1 paper
NM_001188.4
p.V27L
c.79G>C
1 paper
NM_001188.4
p.S69Splc
c.207-1G>A
1 paper
NM_001188.4
p.D83E
c.249C>G
1 paper
NM_001188.4
p.D83E
c.249C>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."