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.S480_E485del6

c.1438_1454del18

Surrounding Variants

1 paper

NM_001123385.2

p.L487I

c.1459C>A

1 paper

NM_001123385.2

p.S480_E485delFs

c.1440_1453del14

1 paper

NM_001123385.2

p.L487insFs

c.1460_1461insT

1 paper

NM_001123385.2

p.S488_P489ins5

c.1462_1466ins15

1 paper

NM_001123385.2

p.P489fs

c.1465_1466fs

1 paper

NM_001123385.2

p.P483fs

c.1447_1448fs

2 papers

NM_001123385.2

p.P489S

c.1465C>T

1 paper

NM_001123385.2

p.P489insFs

c.1465_1466insTC

14 papers

NM_001123385.2

p.P483L

c.1448C>T

1 paper

NM_001123385.2

p.P483S

c.1447C>T

1 paper

NM_001123385.2

p.P490S

c.1468C>T

1 paper

NM_001123385.2

p.G491insFs

c.1471_1472ins4