Varaico: Literature-Extracted Genetic Variants

Gene:BCOR
Variant:p.R188fs

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
1 paper
NM_001123385.2
p.R188fs
c.562_563fs
Surrounding Variants
3 papers
NM_001123385.2
p.R188W
c.562C>T
1 paper
NM_001123385.2
p.P190fs
c.568_569fs
1 paper
NM_001123385.2
p.L187L
c.559C>T
1 paper
NM_001123385.2
p.Y186delFs
c.557_558delAT
1 paper
NM_001123385.2
p.R188_P190delFs
c.563_569del7
3 papers
NM_001123385.2
p.P190delFs
c.570delG
2 papers
NM_001123385.2
p.W191fs
c.571_572fs
1 paper
NM_001123385.2
p.Y186H
c.556T>C
1 paper
NM_001123385.2
p.Y186fs
c.556_557fs
5 papers
NM_001123385.2
p.W191*
c.572G>A
1 paper
NM_001123385.2
p.W191C
c.573G>T
1 paper
NM_001123385.2
p.W191C
c.573G>C
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