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.L1548P

c.4643T>C

Surrounding Variants

3 papers

NM_001123383.1

p.L1514L

c.4540C>T

1 paper

NM_001123385.2

p.L1549V

c.4645C>G

1 paper

NM_001123385.2

p.L1548_L1549delFs

c.4644_4645delGT

1 paper

NM_001123385.2

p.L1549L

c.4647T>G

14 papers

NM_001123385.2

p.R1547*

c.4639C>T

NM_017745.6

p.R1513*

c.4537C>T

1 paper

NM_001123385.2

p.L1550V

c.4648C>G

1 paper

NM_001123385.2

p.V1546A

c.4637T>C

1 paper

NM_001123385.2

p.L1549_L1550del1

c.4647_4649delAGA

1 paper

NM_001123385.2

p.L1549_L1550del2

c.4645_4649del6

1 paper

NM_001123385.2

p.Y1552*

c.4656T>G

1 paper

NM_001123385.2

p.Y1552*

c.4656T>A

1 paper

NM_001123385.2

p.Y1552delFs

c.4656delA