Varaico: Literature-Extracted Genetic Variants

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.H256fs

c.766_767fs

Surrounding Variants

1 paper

NM_001123385.2

p.H256insFs

c.766_767insC

1 paper

NM_001123385.2

p.P258S

c.772C>T

1 paper

NM_001123385.2

p.P258fs

c.772_773fs

1 paper

NM_001123385.2

p.P255S

c.763C>T

1 paper

NM_001123385.2

p.G254fs

c.760_761fs

1 paper

NM_001123385.2

p.G254delFs

c.761delC

1 paper

NM_001123385.2

p.P258fs

c.772_773fs

1 paper

NM_001123385.2

p.S259T

c.775T>A

1 paper

NM_001123385.2

p.G254D

c.761G>A

2 papers

NM_001123385.2

p.S259L

c.776C>T

3 papers

NM_001123385.2

p.S259*

c.776C>A

1 paper

NM_001123385.2

p.P258_S259delFs

c.772_776del5