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_017745.6

p.Q1214*

c.3640C>T

NM_001123385.2

p.Q1248*

c.3742C>T

Surrounding Variants

1 paper

NM_001123385.2

p.G1249insFs

c.3745_3746insTT

1 paper

NM_017745.6

p.G1215delFs

c.3645delC

1 paper

NM_017745.6

p.T1216fs

c.3646_3647fs

1 paper

NM_001123385.2

p.A1245V

c.3734C>T

1 paper

NM_001123385.2

p.N1251D

c.3751A>G

1 paper

NM_001123385.2

p.P1243delFs

c.3727_3728delGG

1 paper

NM_001123385.2

p.P1243S

c.3727C>T

1 paper

NM_001123385.2

p.Q1242delFs

c.3726delC

1 paper

NM_001123385.2

p.Q1242H

c.3726G>T

1 paper

NM_001123385.2

p.Q1242H

c.3726G>C

1 paper

NM_001123385.2

p.T1253delFs

c.3758delG

3 papers

NM_001123385.2

p.Q1242*

c.3724C>T