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.A505T

c.1513G>A

Surrounding Variants

2 papers

NM_001123385.2

p.S507*

c.1520C>G

1 paper

NM_001123385.2

p.I502M

c.1506C>G

2 papers

NM_001123385.2

p.S507*

c.1520C>A

1 paper

NM_001123385.2

p.I496_E500delFs

c.1487_1500del14

3 papers

NM_001123385.2

p.W509*

c.1526G>A

3 papers

NM_001123385.2

p.W509*

c.1527G>A

1 paper

NM_001123385.2

p.E500Q

c.1498G>C

1 paper

NM_001123385.2

p.S499fs

c.1495_1496fs

1 paper

NM_001123385.2

p.V510G

c.1529T>G

1 paper

NM_001123385.2

p.S499F

c.1496C>T

1 paper

NM_001123385.2

p.S499P

c.1495T>C

1 paper

NM_001123385.2

p.V511_P512insFs

c.1533_1534ins10