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

2 papers

NM_001123385.2

p.S469insFs

c.1407dupC

Surrounding Variants

2 papers

NM_001123385.2

p.R470fs

c.1408_1409fs

1 paper

NM_001123385.2

p.A471fs

c.1411_1412fs

1 paper

NM_001123385.2

p.A471A

c.1413T>A

1 paper

NM_001123385.2

p.H468_A471del0

c.1404_1412del9

1 paper

NM_001123385.2

p.V467fs

c.1399_1400fs

1 paper

NM_001123385.2

p.V467delFs

c.1399_1400delAC

1 paper

NM_001123385.2

p.G472A

c.1415G>C

1 paper

NM_001123385.2

p.V467D

c.1400T>A

1 paper

NM_001123385.2

p.V467I

c.1399G>A

1 paper

NM_001123385.2

p.L466_V467ins16

c.1396_1400ins48

1 paper

NM_001123385.2

p.G474D

c.1421G>A

1 paper

NM_001123385.2

p.L475V

c.1423T>G