Varaico: Literature-Extracted Genetic Variants

Gene:BCOR
Variant:p.R746I

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.R746I
c.2237G>T
Surrounding Variants
1 paper
NM_001123385.2
p.R746K
c.2237G>A
1 paper
NM_001123385.2
p.S747F
c.2240C>T
1 paper
NM_001123385.2
p.R748W
c.2242C>T
1 paper
NM_001123385.2
p.E744*
c.2230G>T
1 paper
NM_001123385.2
p.K739_P743delFs
c.2216_2229del14
1 paper
NM_001123385.2
p.R746_R748del3
c.2236_2243del9
1 paper
NM_001123385.2
p.P743R
c.2228C>G
1 paper
NM_001123385.2
p.P743insFs
c.2227_2228insT
1 paper
NM_001123385.2
p.P743ins2
c.2227_2228ins6
1 paper
NM_001123385.2
p.E741_K742Fs
c.2221_2225delinsTTTCFs
1 paper
NM_001123385.2
p.E741fs
c.2221_2222fs
1 paper
NM_001123385.2
p.E751K
c.2251G>A
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