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.E428Q

c.1282G>C

Surrounding Variants

1 paper

NM_001123385.2

p.E428G

c.1283A>G

1 paper

NM_001123385.2

p.K429E

c.1285A>G

2 papers

NM_001123385.2

p.L426delFs

c.1276_1277delAG

1 paper

NM_001123385.2

p.K429fs

c.1285_1286fs

1 paper

NM_001123385.2

p.K429delFs

c.1286delT

1 paper

NM_001123385.2

p.L426fs

c.1276_1277fs

2 papers

NM_001123385.2

p.Q430*

c.1288C>T

1 paper

NM_001123385.2

p.P425fs

c.1273_1274fs

1 paper

NM_001123385.2

p.Q430H

c.1290G>T

1 paper

NM_001123385.2

p.Q430H

c.1290G>C

1 paper

NM_001123385.2

p.T431A

c.1291A>G

1 paper

NM_001123385.2

p.P424R

c.1271C>G