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

9 papers

NM_017745.6

p.E1442_E1443Splc

c.4326+1G>A

NM_001123385.2

p.E1476_E1477Splc

c.4428+1G>A

Surrounding Variants

1 paper

NM_001123385.2

p.E1476_E1477Splc

c.4428+1G>T

1 paper

NM_001123385.2

p.E1476_E1477Splc

c.4428+2T>G

1 paper

NM_001123385.2

p.E1476_E1477Splc

c.4428+2T>A

1 paper

NM_001123385.2

p.E1476*

c.4426G>T

3 papers

NM_001123385.2

p.Y1475*

c.4425T>G

3 papers

NM_001123385.2

p.Y1475*

c.4425T>A

2 papers

NM_001123385.2

p.G1474fs

c.4420_4421fs

1 paper

NM_001123385.2

p.G1474D

c.4421G>A

1 paper

NM_001123385.2

p.L1473Fs

c.4418delinsACTACAAGFs

1 paper

NM_001123385.2

p.A1471_R1472insFs

c.4412_4415dup4

1 paper

NM_001123385.2

p.A1471fs

c.4411_4412fs

1 paper

NM_001123385.2

p.Q1468fs

c.4402_4403fs