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.P483S

c.1447C>T

Surrounding Variants

14 papers

NM_001123385.2

p.P483L

c.1448C>T

1 paper

NM_001123385.2

p.P483fs

c.1447_1448fs

1 paper

NM_001123385.2

p.S480_E481delFs

c.1438_1442del5

1 paper

NM_001123385.2

p.E481_I482ins5

c.1441_1445ins15

1 paper

NM_001123385.2

p.E481_I482ins6

c.1441_1445ins18

1 paper

NM_001123385.2

p.S480fs

c.1438_1439fs

1 paper

NM_001123385.2

p.S480_E485delFs

c.1440_1453del14

1 paper

NM_001123385.2

p.S480_E485del6

c.1438_1454del18

1 paper

NM_001123385.2

p.G479E

c.1436G>A

1 paper

NM_001123385.2

p.G479R

c.1435G>C

1 paper

NM_001123385.2

p.G479R

c.1435G>A

1 paper

NM_001123385.2

p.L487I

c.1459C>A