Varaico: Literature-Extracted Genetic Variants

Gene:BCOR
Variant:p.N575fs

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.N575fs
c.1723_1724fs
Surrounding Variants
2 papers
NM_001123385.2
p.N575S
c.1724A>G
1 paper
NM_001123385.2
p.N575fs
c.1723_1724fs
3 papers
NM_001123385.2
p.P574insFs
c.1722dupC
1 paper
NM_001123385.2
p.P574H
c.1721C>A
1 paper
NM_001123385.2
p.P574T
c.1720C>A
1 paper
NM_001123385.2
p.A578_D579insCA
c.1732_1736ins6
4 papers
NM_001123385.2
p.A573T
c.1717G>A
1 paper
NM_001123385.2
p.D579H
c.1735G>C
1 paper
NM_001123385.2
p.P572S
c.1714C>T
1 paper
NM_001123385.2
p.D579Fs
c.1735_1736delinsTFs
2 papers
NM_001123385.2
p.S571*
c.1712C>G
2 papers
NM_001123385.2
p.S571*
c.1712C>A
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