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

2 papers

NM_001123385.2

p.L984Q

c.2951T>A

Surrounding Variants

3 papers

NM_001123385.2

p.Y985F

c.2954A>T

1 paper

NM_001123385.2

p.E983V

c.2948A>T

1 paper

NM_001123385.2

p.Y985*

c.2955T>G

1 paper

NM_001123385.2

p.Y985*

c.2955T>A

2 papers

NM_001123385.2

p.E983*

c.2947G>T

2 papers

NM_001123385.2

p.E983ins1

c.2947_2948insTGC

1 paper

NM_001123385.2

p.E983K

c.2947G>A

1 paper

NM_001123385.2

p.E983fs

c.2947_2948fs

1 paper

NM_001123385.2

p.T981delFs

c.2941delT

1 paper

NM_001123385.2

p.S988insFs

c.2962_2963insGT

1 paper

NM_001123385.2

p.S988fs

c.2962_2963fs

1 paper

NM_001123385.2

p.S989C

c.2965A>T