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.R1421H

c.4262G>A

Surrounding Variants

2 papers

NM_001123383.1

p.R1387C

c.4159C>T

NM_001123385.2

p.R1421C

c.4261C>T

1 paper

NM_001123385.2

p.D1420_R1421delFs

c.4259_4262del4

1 paper

NM_001123385.2

p.P1416_R1421delFs

c.4247_4262del16

1 paper

NM_001123385.2

p.D1420N

c.4258G>A

2 papers

NM_001123385.2

p.F1419delFs

c.4257delG

1 paper

NM_001123383.1

p.Q1389fs

c.4165_4166fs

2 papers

NM_001123385.2

p.Q1423*

c.4267C>T

2 papers

NM_001123383.1

p.L1388insFs

c.4164dupG

NM_001123385.2

p.L1422insFs

c.4266dupG

2 papers

NM_001123385.2

p.F1419fs

c.4255_4256fs

1 paper

NM_001123385.2

p.F1419fs

c.4255_4256fs

1 paper

NM_001123385.2

p.Q1424*

c.4270C>T

1 paper

NM_001123385.2

p.K1417fs

c.4249_4250fs