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.R752fs

c.2254_2255fs

Surrounding Variants

1 paper

NM_001123385.2

p.R752fs

c.2254_2255fs

1 paper

NM_001123385.2

p.A753P

c.2257G>C

1 paper

NM_001123385.2

p.E751K

c.2251G>A

1 paper

NM_001123385.2

p.E751delFs

c.2251_2252delTC

1 paper

NM_001123385.2

p.R754insFs

c.2261_2262insA

1 paper

NM_001123385.2

p.R754delFs

c.2261_2262delAC

1 paper

NM_001123385.2

p.R746_R748del3

c.2236_2243del9

2 papers

NM_001123385.2

p.Y755F

c.2264A>T

1 paper

NM_001123385.2

p.Y755*

c.2265C>G

5 papers

NM_001123385.2

p.Y755fs

c.2263_2264fs

3 papers

NM_001123385.2

p.Y755insFs

c.2264dupA

1 paper

NM_001123385.2

p.Y755*

c.2265C>A