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.K454fs

c.1360_1361fs

Surrounding Variants

1 paper

NM_001123385.2

p.A455fs

c.1363_1364fs

1 paper

NM_001123385.2

p.A455G

c.1364C>G

1 paper

NM_001123385.2

p.A455delFs

c.1364delG

1 paper

NM_001123385.2

p.D456H

c.1366G>C

2 papers

NM_001123385.2

p.D451E

c.1353T>G

2 papers

NM_001123385.2

p.D451E

c.1353T>A

1 paper

NM_001123385.2

p.V450_D451del1

c.1349_1351delCTA

1 paper

NM_001123385.2

p.V450fs

c.1348_1349fs

1 paper

NM_001123385.2

p.V450delins

c.1349_1350delinsCG

1 paper

NM_001123385.2

p.V450A

c.1349T>C

1 paper

NM_001123385.2

p.K459*

c.1375A>T

1 paper

NM_001123385.2

p.V450I

c.1348G>A