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

2 papers

NM_001123385.2

p.E712*

c.2134G>T

Surrounding Variants

1 paper

NM_001123385.2

p.E712D

c.2136G>T

1 paper

NM_001123385.2

p.E712D

c.2136G>C

1 paper

NM_001123385.2

p.Y704_E712delFs

c.2111_2135del25

1 paper

NM_001123385.2

p.E712del1

c.2134_2135delCTC

1 paper

NM_001123385.2

p.Y704_E712del9

c.2110_2135del27

1 paper

NM_001123385.2

p.F713fs

c.2137_2138fs

2 papers

NM_001123385.2

p.R710H

c.2129G>A

1 paper

NM_001123385.2

p.V714L

c.2140G>T

1 paper

NM_001123385.2

p.F713insFs

c.2139dupT

1 paper

NM_001123385.2

p.V714L

c.2140G>C

1 paper

NM_001123385.2

p.R710C

c.2128C>T

1 paper

NM_001123385.2

p.R710S

c.2128C>A