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.A220P

c.658G>C

Surrounding Variants

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.A220G

c.659C>G

1 paper

NM_001123385.2

p.L221*

c.662T>A

1 paper

NM_001123385.2

p.L221fs

c.661_662fs

1 paper

NM_001123385.2

p.L221_L222insFs

c.663_664insG

1 paper

NM_001123385.2

p.L222fs

c.664_665fs

1 paper

NM_001123385.2

p.M217I

c.651G>A

2 papers

NM_001123385.2

p.P223S

c.667C>T

1 paper

NM_001123385.2

p.M217V

c.649A>G

1 paper

NM_001123385.2

p.P223L

c.668C>T

3 papers

NM_001123385.2

p.Q224*

c.670C>T