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.N1495Y

c.4483A>T

Surrounding Variants

1 paper

NM_001123385.2

p.A1496fs

c.4486_4487fs

1 paper

NM_001123385.2

p.R1493W

c.4477C>T

1 paper

NM_001123385.2

p.N1491delins

c.4472delinsACTA

1 paper

NM_001123385.2

p.Y1498*

c.4494C>G

1 paper

NM_001123385.2

p.Y1498insFs

c.4493dupA

1 paper

NM_001123385.2

p.Y1498*

c.4494C>A

1 paper

NM_001123385.2

p.N1491S

c.4472A>G

1 paper

NM_001123385.2

p.V1490insFs

c.4469_4470insGT

2 papers

NM_017745.6

p.C1465*

c.4395C>A

NM_001123385.2

p.C1499*

c.4497C>A

1 paper

NM_001123385.2

p.A1496_C1499delFs

c.4488_4497del10

1 paper

NM_001123385.2

p.D1489delFs

c.4466delT

1 paper

NM_001123385.2

p.A1500insFs

c.4498_4499insGG