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.H1535fs

c.4603_4604fs

Surrounding Variants

1 paper

NM_001123385.2

p.H1535Y

c.4603C>T

1 paper

NM_001123385.2

p.L1534insFs

c.4601_4602insCT

2 papers

NM_017745.6

p.D1502N

c.4504G>A

NM_001123385.2

p.D1536N

c.4606G>A

1 paper

NM_001123385.2

p.P1533fs

c.4597_4598fs

1 paper

NM_001123385.2

p.R1532S

c.4596G>T

1 paper

NM_001123385.2

p.R1532_P1533insFs

c.4596_4597ins11

1 paper

NM_001123385.2

p.R1532S

c.4596G>C

1 paper

NM_001123385.2

p.R1532Splc

c.4596-1G>A

1 paper

NM_001123385.2

p.R1532G

c.4594A>G

1 paper

NM_001123385.2

p.V1538A

c.4613T>C

1 paper

NM_001123385.2

p.E1539_N1540insG

c.4615_4619ins3

1 paper

NM_001123385.2

p.E1539D

c.4617G>T