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.E1477D

c.4431A>C

Surrounding Variants

1 paper

NM_001123385.2

p.E1477D

c.4431A>T

1 paper

NM_017745.6

p.E1442_E1443Splc

c.4327-1G>A

1 paper

NM_001123385.2

p.V1479insFs

c.4435_4436ins4

1 paper

NM_001123385.2

p.E1476_E1477Splc

c.4429-2A>T

5 papers

NM_001123385.2

p.L1480L

c.4438C>T

1 paper

NM_001123385.2

p.C1482fs

c.4444_4445fs

1 paper

NM_001123385.2

p.N1485fs

c.4453_4454fs

1 paper

NM_001123385.2

p.N1485Fs

c.4455delinsTGGFs

1 paper

NM_001123385.2

p.N1485_K1486insFs

c.4455_4456insGG

1 paper

NM_001123385.2

p.N1485_K1486delFs

c.4455_4456delTG

1 paper

NM_001123385.2

p.K1486N

c.4458G>T

1 paper

NM_001123385.2

p.K1486fs

c.4456_4457fs