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.R1507S

c.4521G>T

Surrounding Variants

1 paper

NM_001123385.2

p.R1507S

c.4521G>C

1 paper

NM_001123383.1

p.A1472fs

c.4414_4415fs

1 paper

NM_001123385.2

p.G1508insFs

c.4523dupG

1 paper

NM_001123385.2

p.W1509R

c.4525T>C

1 paper

NM_001123385.2

p.W1509R

c.4525T>A

2 papers

NM_017745.6

p.W1475*

c.4424G>A

NM_001123385.2

p.W1509*

c.4526G>A

1 paper

NM_001123385.2

p.C1505fs

c.4513_4514fs

2 papers

NM_017745.6

p.W1475*

c.4425G>A

NM_001123385.2

p.W1509*

c.4527G>A

1 paper

NM_001123385.2

p.C1505Y

c.4514G>A

2 papers

NM_001123385.2

p.A1504_C1505Fs

c.4512_4514delinsAFs

1 paper

NM_001123385.2

p.N1511fs

c.4531_4532fs

1 paper

NM_001123385.2

p.E1503K

c.4507G>A