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

6 papers

NM_001123385.2

p.Q416*

c.1246C>T

Surrounding Variants

1 paper

NM_001123385.2

p.V415fs

c.1243_1244fs

1 paper

NM_001123385.2

p.Q416L

c.1247A>T

1 paper

NM_001123385.2

p.A414_V415insFs

c.1242_1243ins4

2 papers

NM_001123385.2

p.A414T

c.1240G>A

1 paper

NM_001123385.2

p.R418G

c.1252A>G

1 paper

NM_001123385.2

p.R418K

c.1253G>A

1 paper

NM_001123385.2

p.R418delFs

c.1252delT

1 paper

NM_001123385.2

p.R418fs

c.1252_1253fs

1 paper

NM_001123385.2

p.R418delFs

c.1253_1254delTC

1 paper

NM_001123385.2

p.D420fs

c.1258_1259fs

1 paper

NM_001123385.2

p.D420Y

c.1258G>T

2 papers

NM_001123385.2

p.K419delFs

c.1257delT