Varaico: Literature-Extracted Genetic Variants

Gene:BCOR
Variant:p.R1209H

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.R1209H
c.3626G>A
Surrounding Variants
2 papers
NM_001123385.2
p.Q1208fs
c.3622_3623fs
1 paper
NM_001123385.2
p.Q1208*
c.3622C>T
2 papers
NM_001123385.2
p.K1207insFs
c.3621dupA
4 papers
NM_001123385.2
p.K1207delFs
c.3621delT
1 paper
NM_001123385.2
p.Q1208fs
c.3622_3623fs
1 paper
NM_001123385.2
p.L1211_L1212insA
c.3631_3635ins3
1 paper
NM_001123385.2
p.K1207K
c.3621A>G
3 papers
NM_001123385.2
p.K1207fs
c.3619_3620fs
1 paper
NM_001123385.2
p.L1212_H1213insT
c.3634_3638ins3
1 paper
NM_001123385.2
p.P1205delFs
c.3615delA
1 paper
NM_001123385.2
p.P1205delFs
c.3613delG
1 paper
NM_001123385.2
p.P1205S
c.3613C>T
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