Varaico: Literature-Extracted Genetic Variants

Gene:BCOR
Variant:p.S259*

BCOR

1,203 papers

RefSeq Summary

The protein encoded by this gene was identified as an interacting corepressor of BCL6, a POZ/zinc finger transcription repressor that is required for germinal center formation and may influence apopto...

Pfam Domains

BCORaa 1202–1414UCSCBCL-6 co-repressor, non-ankyrin-repeat region
Ank_2aa 1467–1560UCSCAnkyrin repeats (3 copies)
PUFDaa 1634–1747UCSCBCORL-PCGF1-binding domain

Gene Aliases

HGNC Name

BCL6 corepressor

HGNC Alias Symbols

FLJ20285; KIAA1575

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001123385.2
p.S259*
c.776C>A
Surrounding Variants
2 papers
NM_001123385.2
p.S259L
c.776C>T
1 paper
NM_001123385.2
p.S259T
c.775T>A
1 paper
NM_001123385.2
p.P258_S259delFs
c.772_776del5
1 paper
NM_001123385.2
p.P258fs
c.772_773fs
1 paper
NM_001123385.2
p.P258S
c.772C>T
1 paper
NM_001123385.2
p.P258fs
c.772_773fs
1 paper
NM_001123385.2
p.L261fs
c.781_782fs
1 paper
NM_001123385.2
p.L261*
c.782T>A
1 paper
NM_001123385.2
p.H256fs
c.766_767fs
1 paper
NM_001123385.2
p.H256insFs
c.766_767insC
1 paper
NM_001123385.2
p.S263L
c.788C>T
2 papers
NM_001123385.2
p.S263*
c.788C>G
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