Varaico: Literature-Extracted Genetic Variants

Gene:BCOR
Variant:p.N790fs

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.N790fs
c.2368_2369fs
Surrounding Variants
1 paper
NM_001123385.2
p.W791fs
c.2371_2372fs
1 paper
NM_001123385.2
p.W791L
c.2372G>T
1 paper
NM_001123385.2
p.W791insFs
c.2372_2373insTG
1 paper
NM_001123385.2
p.W791*
c.2372G>A
1 paper
NM_001123385.2
p.P789insFs
c.2367dupC
1 paper
NM_001123385.2
p.N788_P789delFs
c.2364_2365delGG
1 paper
NM_001123385.2
p.W791*
c.2373G>A
1 paper
NM_001123385.2
p.N792fs
c.2374_2375fs
1 paper
NM_001123385.2
p.N792delFs
c.2375delT
1 paper
NM_001123385.2
p.Q793*
c.2377C>T
1 paper
NM_001123385.2
p.N788I
c.2363A>T
1 paper
NM_001123385.2
p.P787delFs
c.2360delG
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