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.Q539fs

c.1615_1616fs

Surrounding Variants

1 paper

NM_001123385.2

p.R540W

c.1618C>T

1 paper

NM_001123385.2

p.R540R

c.1618C>A

1 paper

NM_001123385.2

p.A535_Q539delFs

c.1605_1615del11

10 papers

NM_001123385.2

p.R540Q

c.1619G>A

1 paper

NM_001123385.2

p.Q539*

c.1615C>T

1 paper

NM_001123385.2

p.A531_Q538del8

c.1591_1613del24

1 paper

NM_001123385.2

p.Q538H

c.1614G>T

1 paper

NM_001123385.2

p.Q538H

c.1614G>C

2 papers

NM_001123385.2

p.Q538*

c.1612C>T

1 paper

NM_001123385.2

p.A535fs

c.1603_1604fs

2 papers

NM_001123385.2

p.A535V

c.1604C>T

1 paper

NM_001123385.2

p.A535P

c.1603G>C