Varaico: Literature-Extracted Genetic Variants

Gene:BCLAF1
Variant:p.Y892*

BCLAF1

219 papers

RefSeq Summary

This gene encodes a transcriptional repressor that interacts with several members of the BCL2 family of proteins. Overexpression of this protein induces apoptosis, which can be suppressed by co-expres...

Pfam Domains

THRAP3_BCLAF1aa 108–768UCSCTHRAP3/BCLAF1 family

Gene Aliases

HGNC Name

BCL2 associated transcription factor 1

HGNC Alias Symbol

KIAA0164

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014739.3
p.Y892*
c.2676C>G
Surrounding Variants
1 paper
NM_014739.3
p.Y892*
c.2676C>A
1 paper
NM_014739.3
p.D890E
c.2670C>G
1 paper
NM_014739.3
p.D895E
c.2685T>G
1 paper
NM_014739.3
p.D895E
c.2685T>A
7 papers
NM_014739.3
p.T888N
c.2663C>A
1 paper
NM_014739.3
p.E902K
c.2704G>A
1 paper
NM_014739.3
p.K880R
c.2639A>G
1 paper
NM_014739.3
p.R875fs
c.2623_2624fs
1 paper
NM_014739.3
p.R875C
c.2623C>T
1 paper
NM_014739.3
p.K912fs
c.2734_2735fs
1 paper
NM_014739.3
p.R871H
c.2612G>A
2 papers
NM_001077440.3
p.R820C
c.2458C>T
NM_014739.3
p.R871C
c.2611C>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."