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.T329R

c.986C>G

Surrounding Variants

1 paper

NM_001123385.2

p.T329I

c.986C>T

1 paper

NM_001123385.2

p.A330T

c.988G>A

3 papers

NM_001123385.2

p.D328fs

c.982_983fs

1 paper

NM_001123385.2

p.D328fs

c.982_983fs

1 paper

NM_001123385.2

p.G327E

c.980G>A

2 papers

NM_001123385.2

p.P326L

c.977C>T

4 papers

NM_001123385.2

p.P326T

c.976C>A

1 paper

NM_001123385.2

p.L333W

c.998T>G

1 paper

NM_001123385.2

p.A318_G324del7

c.952_971del21

1 paper

NM_001123385.2

p.P334A

c.1000C>G

1 paper

NM_001123385.2

p.P334fs

c.1000_1001fs

1 paper

NM_001123385.2

p.G324fs

c.970_971fs