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.S273F

c.818C>T

Surrounding Variants

1 paper

NM_001123385.2

p.S268_S273delFs

c.802_818del17

1 paper

NM_001123385.2

p.P274fs

c.820_821fs

1 paper

NM_001123385.2

p.S273delFs

c.819delG

1 paper

NM_001123385.2

p.P274delFs

c.820_821delGG

1 paper

NM_001123385.2

p.S271L

c.812C>T

1 paper

NM_001123385.2

p.S271*

c.812C>A

2 papers

NM_001123385.2

p.A275_I276insFs

c.825_826ins4

1 paper

NM_001123385.2

p.I276insFs

c.826_827ins4

1 paper

NM_001123385.2

p.P270L

c.809C>T

1 paper

NM_001123385.2

p.P270S

c.808C>T

1 paper

NM_001123385.2

p.T269delFs

c.807delT

1 paper

NM_001123385.2

p.T269fs

c.805_806fs