Varaico: Literature-Extracted Genetic Variants

Gene:BCLAF1
Variant:p.Q165K

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.Q165K
c.493C>A
Surrounding Variants
1 paper
NM_014739.3
p.Q165H
c.495A>T
1 paper
NM_014739.3
p.Q165H
c.495A>C
1 paper
NM_014739.3
p.K164T
c.491A>C
1 paper
NM_014739.3
p.E163*
c.487G>T
2 papers
NM_014739.3
p.Q162*
c.484C>T
1 paper
NM_014739.3
p.S161A
c.481T>G
1 paper
NM_014739.3
p.A169D
c.506C>A
2 papers
NM_014739.3
p.R159*
c.475C>T
1 paper
NM_014739.3
p.R158I
c.473G>T
1 paper
NM_014739.3
p.R158G
c.472A>G
2 papers
NM_014739.3
p.S177N
c.530G>A
1 paper
NM_014739.3
p.P178P
c.534G>A
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