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.P249_P250del1

c.746_748delGTG

Surrounding Variants

1 paper

NM_001123385.2

p.P250H

c.749C>A

1 paper

NM_001123385.2

p.H251insFs

c.752_753dupAC

1 paper

NM_001123385.2

p.P249L

c.746C>T

1 paper

NM_001123385.2

p.P248fs

c.742_743fs

1 paper

NM_001123385.2

p.Y252Y

c.756C>T

3 papers

NM_001123385.2

p.Y252*

c.756C>G

3 papers

NM_001123385.2

p.Y252*

c.756C>A

1 paper

NM_001123385.2

p.V253F

c.757G>T

1 paper

NM_001123385.2

p.V253L

c.757G>C

1 paper

NM_001123385.2

p.V253I

c.757G>A

1 paper

NM_001123385.2

p.P248L

c.743C>T

1 paper

NM_001123385.2

p.P248fs

c.742_743fs