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.R1514Q

c.4541G>A

Surrounding Variants

3 papers

NM_001123385.2

p.R1514insFs

c.4541_4542ins4

1 paper

NM_001123383.1

p.A1472_R1480delFs

c.4416_4438del23

17 papers

NM_001123385.2

p.R1514*

c.4540C>T

NM_017745.6

p.R1480*

c.4438C>T

1 paper

NM_001123385.2

p.H1515R

c.4544A>G

3 papers

NM_001123385.2

p.H1515fs

c.4543_4544fs

1 paper

NM_001123385.2

p.N1511fs

c.4531_4532fs

1 paper

NM_001123385.2

p.L1517insFs

c.4549_4550insC

1 paper

NM_001123385.2

p.L1516_L1517del1

c.4548_4550delAGG

1 paper

NM_001123385.2

p.L1517del1

c.4549_4550delAAG

1 paper

NM_001123385.2

p.E1518insFs

c.4552_4553insGG

2 papers

NM_017745.6

p.W1475*

c.4425G>A

NM_001123385.2

p.W1509*

c.4527G>A

2 papers

NM_017745.6

p.W1475*

c.4424G>A

NM_001123385.2

p.W1509*

c.4526G>A