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

2 papers

NM_001123385.2

p.A1117T

c.3349G>A

Surrounding Variants

1 paper

NM_001123385.2

p.P1115fs

c.3343_3344fs

1 paper

NM_001123385.2

p.D1118fs

c.3352_3353fs

1 paper

NM_001123385.2

p.E1114_P1115delFs

c.3340_3343del4

1 paper

NM_001123385.2

p.Q1119*

c.3355C>T

1 paper

NM_001123385.2

p.A1117_D1118del2

c.3349_3353del6

2 papers

NM_001123385.2

p.E1114fs

c.3340_3341fs

1 paper

NM_001123385.2

p.Q1119L

c.3356A>T

1 paper

NM_001123385.2

p.Q1119_V1120insFs

c.3357_3358insC

2 papers

NM_001123385.2

p.Q1119fs

c.3355_3356fs

1 paper

NM_001123384.2

p.E1096delFs

c.3286delC

1 paper

NM_001123385.2

p.E1114*

c.3340G>T

1 paper

NM_001123384.2

p.E1096fs

c.3286_3287fs