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.P305fs

c.913_914fs

Surrounding Variants

1 paper

NM_001123385.2

p.P305delFs

c.914delG

1 paper

NM_001123385.2

p.P305fs

c.913_914fs

1 paper

NM_001123385.2

p.H306delFs

c.916delG

2 papers

NM_001123385.2

p.Y304*

c.912T>G

2 papers

NM_001123385.2

p.Y304*

c.912T>A

2 papers

NM_001123385.2

p.H306fs

c.916_917fs

1 paper

NM_001123385.2

p.V299_Y304delFs

c.895_910del16

2 papers

NM_001123385.2

p.Q308*

c.922C>T

2 papers

NM_001123385.2

p.A303T

c.907G>A

1 paper

NM_001123385.2

p.Q308R

c.923A>G

1 paper

NM_001123385.2

p.Q308delFs

c.922delG

1 paper

NM_001123385.2

p.Q308H

c.924G>T