Varaico: Literature-Extracted Genetic Variants

Gene:BCLAF1

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
1–12 of 293 variants
10 papers
NM_014739.3
p.N629S
c.1886A>G
8 papers
NM_014739.3
p.Y459D
c.1375T>G
7 papers
NM_014739.3
p.L461H
c.1382T>A
7 papers
NM_014739.3
p.T888N
c.2663C>A
6 papers
NM_014739.3
p.G66A
c.197G>C
6 papers
NM_014739.3
p.H665D
c.1993C>G
5 papers
NM_014739.3
p.S209C
c.626C>G
4 papers
NM_014739.3
p.E403*
c.1207G>T
4 papers
NM_014739.3
p.R699H
c.2096G>A
4 papers
NM_014739.3
p.S718R
c.2152A>C
4 papers
NM_014739.3
p.S718R
c.2154T>G
4 papers
NM_014739.3
p.S718R
c.2154T>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."