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.H597Y

c.1789C>T

Surrounding Variants

4 papers

NM_001123385.2

p.H597H

c.1791C>T

1 paper

NM_001123385.2

p.V598M

c.1792G>A

2 papers

NM_001123385.2

p.Q596*

c.1786C>T

1 paper

NM_001123385.2

p.V598A

c.1793T>C

1 paper

NM_001123385.2

p.K582_V598ins5

c.1746_1793dup48

2 papers

NM_001123385.2

p.V598fs

c.1792_1793fs

6 papers

NM_001123385.2

p.V594I

c.1780G>A

2 papers

NM_001123385.2

p.Q600*

c.1798C>T

1 paper

NM_001123385.2

p.P601S

c.1801C>T

1 paper

NM_001123385.2

p.P601fs

c.1801_1802fs

1 paper

NM_001123385.2

p.P601L

c.1802C>T

1 paper

NM_001123385.2

p.P601fs

c.1801_1802fs