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

3 papers

NM_001123385.2

p.Q1242*

c.3724C>T

Surrounding Variants

1 paper

NM_001123385.2

p.Q1242_P1243ins4

c.3724_3728ins12

2 papers

NM_001123385.2

p.Q1242K

c.3724C>A

1 paper

NM_001123385.2

p.T1241fs

c.3721_3722fs

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.A1240_T1241delins

c.3720_3722delinsTGT

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.P1243delFs

c.3727_3728delGG

1 paper

NM_001123385.2

p.A1240V

c.3719C>T

1 paper

NM_001123385.2

p.A1240D

c.3719C>A

1 paper

NM_001123385.2

p.Q1239fs

c.3715_3716fs