Varaico: Literature-Extracted Genetic Variants

Gene:BCLAF1
Variant:p.R45L

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_001077440.3
p.R45L
c.134G>T
Surrounding Variants
1 paper
NM_014739.3
p.S46Y
c.137C>A
1 paper
NM_014739.3
p.R45M
c.134G>T
2 papers
NM_014739.3
p.S54F
c.161C>T
1 paper
NM_014739.3
p.S54S
c.162T>A
1 paper
NM_014739.3
p.D56N
c.166G>A
1 paper
NM_014739.3
p.S38fs
c.112_113fs
1 paper
NM_014739.3
p.Y57D
c.169T>G
2 papers
NM_014739.3
p.S36_R37ins7
c.108_109ins21
2 papers
NM_014739.3
p.S36_R37ins13
c.108_109ins39
1 paper
NM_014739.3
p.R58R
c.174T>A
1 paper
NM_014739.3
p.S36T
c.106T>A
1 paper
NM_014739.3
p.S35_S36ins5
c.105_106ins15
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