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.E130D

c.390G>T

Surrounding Variants

3 papers

NM_001123385.2

p.E130fs

c.388_389fs

1 paper

NM_001123385.2

p.E130D

c.390G>C

1 paper

NM_001123385.2

p.T131insFs

c.391_392insT

2 papers

NM_001123385.2

p.E130_T131Fs

c.390_391delinsTTCTTGGFs

1 paper

NM_001123385.2

p.P129_E130insFs

c.387_388insC

1 paper

NM_001123385.2

p.T131R

c.392C>G

1 paper

NM_001123385.2

p.T131fs

c.391_392fs

2 papers

NM_001123385.2

p.V132M

c.394G>A

1 paper

NM_001123385.2

p.N127delFs

c.380delT

1 paper

NM_001123385.2

p.E133insFs

c.398_399insAC

2 papers

NM_001123385.2

p.A134T

c.400G>A

1 paper

NM_001123385.2

p.N127fs

c.379_380fs