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.N629N

c.1887C>T

Surrounding Variants

1 paper

NM_001123385.2

p.E630*

c.1888G>T

2 papers

NM_001123385.2

p.E630K

c.1888G>A

1 paper

NM_001123385.2

p.S625_E630delFs

c.1875_1890del16

1 paper

NM_001123385.2

p.K627insFs

c.1879dupA

1 paper

NM_001123385.2

p.A628T

c.1882G>A

1 paper

NM_001123385.2

p.S625_E630del6

c.1873_1889del18

1 paper

NM_001123385.2

p.S625_N631del7

c.1873_1892del21

1 paper

NM_001123385.2

p.E630_G632delFs

c.1888_1895del8

1 paper

NM_001123385.2

p.F626I

c.1876T>A

1 paper

NM_001123385.2

p.P634Q

c.1901C>A

1 paper

NM_001123385.2

p.P624P

c.1872G>A

2 papers

NM_001123385.2

p.P624L

c.1871C>T