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.Q995*

c.2983C>T

Surrounding Variants

1 paper

NM_001123385.2

p.Q995E

c.2983C>G

1 paper

NM_001123385.2

p.E994Q

c.2980G>C

1 paper

NM_001123385.2

p.E994fs

c.2980_2981fs

1 paper

NM_001123385.2

p.R996Q

c.2987G>A

1 paper

NM_001123385.2

p.L991_S992delFs

c.2972_2976del5

1 paper

NM_001123385.2

p.A997fs

c.2989_2990fs

1 paper

NM_001123385.2

p.A997E

c.2990C>A

1 paper

NM_001123385.2

p.A997delFs

c.2989delC

1 paper

NM_001123385.2

p.A997fs

c.2989_2990fs

1 paper

NM_001123385.2

p.S992C

c.2974A>T

1 paper

NM_001123385.2

p.L991fs

c.2971_2972fs

3 papers

NM_001123385.2

p.Q999*

c.2995C>T