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.A535V

c.1604C>T

Surrounding Variants

1 paper

NM_001123385.2

p.A535fs

c.1603_1604fs

1 paper

NM_001123385.2

p.A535P

c.1603G>C

1 paper

NM_001123385.2

p.W534fs

c.1600_1601fs

4 papers

NM_001123385.2

p.W534*

c.1602G>A

4 papers

NM_001123385.2

p.W534*

c.1601G>A

1 paper

NM_001123385.2

p.L532delFs

c.1596delC

1 paper

NM_001123385.2

p.L532fs

c.1594_1595fs

2 papers

NM_001123385.2

p.Q538*

c.1612C>T

1 paper

NM_001123385.2

p.L532S

c.1595T>C

1 paper

NM_001123385.2

p.Q538H

c.1614G>T

1 paper

NM_001123385.2

p.Q538H

c.1614G>C

1 paper

NM_001123385.2

p.Q539*

c.1615C>T