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.D757E

c.2271C>A

Surrounding Variants

1 paper

NM_001123385.2

p.D757E

c.2271C>G

1 paper

NM_001123385.2

p.D757fs

c.2269_2270fs

2 papers

NM_001123385.2

p.T759A

c.2275A>G

1 paper

NM_001123385.2

p.T759_L760ins4

c.2275_2279ins12

1 paper

NM_001123385.2

p.T759_L760ins6

c.2275_2279ins18

4 papers

NM_001123385.2

p.E756*

c.2266G>T

3 papers

NM_001123385.2

p.T759I

c.2276C>T

1 paper

NM_001123385.2

p.Y755*

c.2265C>G

5 papers

NM_001123385.2

p.Y755fs

c.2263_2264fs

3 papers

NM_001123385.2

p.Y755insFs

c.2264dupA

1 paper

NM_001123385.2

p.Y755*

c.2265C>A

2 papers

NM_001123385.2

p.Y755F

c.2264A>T