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_001123384.2

p.L1491*

c.4472T>A

Surrounding Variants

1 paper

NM_001123385.2

p.H1542D

c.4624C>G

1 paper

NM_001123385.2

p.D1541fs

c.4621_4622fs

1 paper

NM_001123385.2

p.D1541insFs

c.4621dupG

1 paper

NM_001123385.2

p.N1540delFs

c.4620delG

1 paper

NM_001123385.2

p.N1540fs

c.4618_4619fs

1 paper

NM_001123385.2

p.N1540delFs

c.4619delT

1 paper

NM_001123385.2

p.V1546A

c.4637T>C

1 paper

NM_001123385.2

p.N1540fs

c.4618_4619fs

1 paper

NM_001123385.2

p.E1539D

c.4617G>T

1 paper

NM_001123385.2

p.E1539insFs

c.4616dupA

1 paper

NM_001123385.2

p.P1533_E1539insFs

c.4598_4616dup19

1 paper

NM_001123385.2

p.E1539D

c.4617G>C