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.P171fs

c.511_512fs

Surrounding Variants

1 paper

NM_001123385.2

p.A172insFs

c.514_515insT

1 paper

NM_001123385.2

p.P171insFs

c.512_513insGC

1 paper

NM_001123385.2

p.R170fs

c.508_509fs

1 paper

NM_001123385.2

p.A172fs

c.514_515fs

1 paper

NM_001123385.2

p.S173G

c.517A>G

1 paper

NM_001123385.2

p.D169fs

c.505_506fs

1 paper

NM_001123385.2

p.D174N

c.520G>A

1 paper

NM_001123385.2

p.R170_S173delFs

c.510_517del8

1 paper

NM_001123385.2

p.D169insFs

c.505dupG

1 paper

NM_001123385.2

p.L168delFs

c.504delC

2 papers

NM_001123385.2

p.K175fs

c.523_524fs

7 papers

NM_001123385.2

p.K175fs

c.523_524fs