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.M217V

c.649A>G

Surrounding Variants

1 paper

NM_001123385.2

p.M217I

c.651G>A

1 paper

NM_001123385.2

p.P210_L215delFs

c.629_644del16

1 paper

NM_001123385.2

p.L215P

c.644T>C

1 paper

NM_001123385.2

p.S214insFs

c.641_642insC

1 paper

NM_001123385.2

p.K219fs

c.655_656fs

1 paper

NM_001123385.2

p.S214_K219delFs

c.640_656del17

1 paper

NM_001123385.2

p.S214L

c.641C>T

3 papers

NM_001123385.2

p.S214*

c.641C>G

3 papers

NM_001123385.2

p.S214*

c.641C>A

1 paper

NM_001123385.2

p.A220P

c.658G>C

1 paper

NM_001123385.2

p.Y213*

c.639T>G

1 paper

NM_001123385.2

p.Y213*

c.639T>A