Varaico: Literature-Extracted Genetic Variants

Gene:BCLAF1
Variant:p.R117I

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.R117I
c.350G>T
Surrounding Variants
1 paper
NM_014739.3
p.R117T
c.350G>C
1 paper
NM_014739.3
p.R117K
c.350G>A
1 paper
NM_014739.3
p.R118G
c.352A>G
1 paper
NM_014739.3
p.K116T
c.347A>C
1 paper
NM_014739.3
p.S119S
c.357C>T
1 paper
NM_014739.3
p.V120I
c.358G>A
1 paper
NM_014739.3
p.S122C
c.365C>G
1 paper
NM_014739.3
p.R111H
c.332G>A
1 paper
NM_014739.3
p.R124I
c.371G>T
1 paper
NM_014739.3
p.R109H
c.326G>A
1 paper
NM_014739.3
p.G108fs
c.322_323fs
1 paper
NM_014739.3
p.R126K
c.377G>A
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