Varaico: Literature-Extracted Genetic Variants

Gene:BCOR
Variant:p.P1451del1

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.P1451del1
c.4351_4353delCGG
Surrounding Variants
1 paper
NM_001123385.2
p.R1447_P1451delFs
c.4340_4352del13
1 paper
NM_001123385.2
p.P1451fs
c.4351_4352fs
2 papers
NM_001123385.2
p.P1451L
c.4352C>T
1 paper
NM_001123385.2
p.A1453fs
c.4357_4358fs
2 papers
NM_001123385.2
p.R1454Q
c.4361G>A
1 paper
NM_001123385.2
p.P1440_A1453del14
c.4318_4358del42
1 paper
NM_001123385.2
p.R1455_L1456insFs
c.4365_4366insG
1 paper
NM_001123385.2
p.L1456fs
c.4366_4367fs
1 paper
NM_001123385.2
p.R1447R
c.4341C>G
1 paper
NM_001123385.2
p.R1447R
c.4341C>A
1 paper
NM_001123385.2
p.I1457M
c.4371T>G
1 paper
NM_001123385.2
p.S1446fs
c.4336_4337fs
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