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.N517fs

c.1549_1550fs

Surrounding Variants

1 paper

NM_001123385.2

p.N517delFs

c.1549_1550delTT

3 papers

NM_001123385.2

p.E518*

c.1552G>T

2 papers

NM_001123385.2

p.E519*

c.1555G>T

3 papers

NM_001123385.2

p.P516S

c.1546C>T

1 paper

NM_001123385.2

p.E519D

c.1557G>T

1 paper

NM_001123385.2

p.E519fs

c.1555_1556fs

1 paper

NM_001123385.2

p.E519D

c.1557G>C

1 paper

NM_001123385.2

p.N520D

c.1558A>G

1 paper

NM_001123385.2

p.E519_N520delFs

c.1555_1559del5

1 paper

NM_001123385.2

p.P514S

c.1540C>T

3 papers

NM_001123385.2

p.G513_P514insFs

c.1539_1540insG

1 paper

NM_001123385.2

p.P514_S515insT

c.1540_1544ins3