Varaico: Literature-Extracted Genetic Variants

Gene:BCOR
Variant:p.Y252*

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.Y252*
c.756C>G
Surrounding Variants
1 paper
NM_001123385.2
p.Y252Y
c.756C>T
3 papers
NM_001123385.2
p.Y252*
c.756C>A
1 paper
NM_001123385.2
p.V253F
c.757G>T
1 paper
NM_001123385.2
p.V253L
c.757G>C
1 paper
NM_001123385.2
p.V253I
c.757G>A
1 paper
NM_001123385.2
p.H251insFs
c.752_753dupAC
1 paper
NM_001123385.2
p.V253_G254insFs
c.759_760ins4
1 paper
NM_001123385.2
p.V253_G254ins2
c.759_760ins6
1 paper
NM_001123385.2
p.G254D
c.761G>A
1 paper
NM_001123385.2
p.G254fs
c.760_761fs
1 paper
NM_001123385.2
p.G254delFs
c.761delC
1 paper
NM_001123385.2
p.P249_P250del1
c.746_748delGTG
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