Varaico: Literature-Extracted Genetic Variants

Gene:BCOR
Variant:p.T591fs

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.T591fs
c.1771_1772fs
Surrounding Variants
1 paper
NM_001123385.2
p.T591I
c.1772C>T
4 papers
NM_001123385.2
p.T591R
c.1772C>G
6 papers
NM_001123385.2
p.V594I
c.1780G>A
2 papers
NM_001123385.2
p.Q596*
c.1786C>T
2 papers
NM_001123385.2
p.S586fs
c.1756_1757fs
1 paper
NM_001123385.2
p.S586delFs
c.1757delC
1 paper
NM_001123385.2
p.S586T
c.1757G>C
1 paper
NM_001123385.2
p.H597Y
c.1789C>T
1 paper
NM_001123385.2
p.R585insFs
c.1755dupG
4 papers
NM_001123385.2
p.H597H
c.1791C>T
1 paper
NM_001123385.2
p.V598M
c.1792G>A
1 paper
NM_001123385.2
p.V598A
c.1793T>C
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