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.E836D

c.2508G>T

Surrounding Variants

1 paper

NM_001123385.2

p.E836D

c.2508G>C

1 paper

NM_001123385.2

p.P837A

c.2509C>G

1 paper

NM_001123385.2

p.P838S

c.2512C>T

1 paper

NM_001123385.2

p.P838L

c.2513C>T

1 paper

NM_001123385.2

p.P838R

c.2513C>G

1 paper

NM_001123385.2

p.P838fs

c.2512_2513fs

1 paper

NM_001123385.2

p.S834fs

c.2500_2501fs

4 papers

NM_001123385.2

p.K839fs

c.2515_2516fs

6 papers

NM_001123385.2

p.K839Fs

c.2515delinsCAFs

4 papers

NM_001123385.2

p.P838delFs

c.2514delG

7 papers

NM_001123385.2

p.K839fs

c.2515_2516fs

2 papers

NM_001123385.2

p.Q833*

c.2497C>T