Varaico: Literature-Extracted Genetic Variants

Gene:BCOR
Variant:p.E857fs

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
2 papers
NM_001123385.2
p.E857fs
c.2569_2570fs
Surrounding Variants
1 paper
NM_001123385.2
p.E857delFs
c.2570_2571delCT
1 paper
NM_001123385.2
p.E857*
c.2569G>T
1 paper
NM_001123385.2
p.R856S
c.2568A>T
1 paper
NM_001123385.2
p.R856S
c.2568A>C
1 paper
NM_001123385.2
p.L859L
c.2575T>C
1 paper
NM_001123385.2
p.E857_E858delFs
c.2570_2574del5
1 paper
NM_001123385.2
p.L859*
c.2576T>A
1 paper
NM_001123385.2
p.L855delFs
c.2565delC
1 paper
NM_001123385.2
p.L855fs
c.2563_2564fs
1 paper
NM_001123385.2
p.G860fs
c.2578_2579fs
2 papers
NM_001123385.2
p.R861C
c.2581C>T
2 papers
NM_001123385.2
p.R861H
c.2582G>A
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