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.K439M

c.1316A>T

Surrounding Variants

1 paper

NM_001123385.2

p.K439E

c.1315A>G

1 paper

NM_001123385.2

p.D438delFs

c.1313delT

1 paper

NM_001123385.2

p.P440fs

c.1318_1319fs

1 paper

NM_001123385.2

p.D438G

c.1313A>G

1 paper

NM_001123385.2

p.D438N

c.1312G>A

2 papers

NM_001123385.2

p.P440delFs

c.1319delG

1 paper

NM_001123385.2

p.L441R

c.1322T>G

2 papers

NM_001123385.2

p.T437I

c.1310C>T

1 paper

NM_001123385.2

p.T437S

c.1309A>T

1 paper

NM_001123385.2

p.V436delFs

c.1306delC

1 paper

NM_001123385.2

p.D442_L443insFs

c.1326_1327ins10

1 paper

NM_001123385.2

p.K434insFs

c.1300_1301dupAA