Varaico: Literature-Extracted Genetic Variants

Gene:BCOR
Variant:p.L722F

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.L722F
c.2166G>T
Surrounding Variants
2 papers
NM_001123385.2
p.L722F
c.2166G>C
1 paper
NM_001123385.2
p.L722*
c.2165T>A
1 paper
NM_001123385.2
p.L720V
c.2158C>G
1 paper
NM_001123385.2
p.P727T
c.2179C>A
1 paper
NM_001123385.2
p.Q717*
c.2149C>T
1 paper
NM_001123385.2
p.Q717K
c.2149C>A
1 paper
NM_001123385.2
p.Y716*
c.2148C>G
1 paper
NM_001123385.2
p.Y716*
c.2148C>A
1 paper
NM_001123385.2
p.L729M
c.2185T>A
1 paper
NM_001123385.2
p.L729fs
c.2185_2186fs
1 paper
NM_001123385.2
p.L729F
c.2187G>T
1 paper
NM_001123385.2
p.L729F
c.2187G>C
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