Varaico: Literature-Extracted Genetic Variants

Gene:BCLAF1
Variant:p.N629S

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
10 papers
NM_014739.3
p.N629S
c.1886A>G
Surrounding Variants
1 paper
NM_014739.3
p.E640G
c.1919A>G
1 paper
NM_014739.3
p.E618K
c.1852G>A
1 paper
NM_014739.3
p.E618Splc
c.1853-3C>A
1 paper
NM_014739.3
p.R645R
c.1935G>A
1 paper
NM_014739.3
p.S658*
c.1973C>G
1 paper
NM_014739.3
p.S658*
c.1973C>A
6 papers
NM_014739.3
p.H665D
c.1993C>G
1 paper
NM_014739.3
p.K676insFs
c.2028dupA
1 paper
NM_014739.3
p.K676delFs
c.2026delT
1 paper
NM_014739.3
p.H614R
c.1841A>G
1 paper
NM_014739.3
p.V613I
c.1837G>A
1 paper
NM_014739.3
p.S611fs
c.1831_1832fs
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