Varaico: Literature-Extracted Genetic Variants

Gene:BCOR
Variant:p.I730delFs

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.I730delFs
c.2189delA
Surrounding Variants
1 paper
NM_001123385.2
p.I730fs
c.2188_2189fs
1 paper
NM_001123385.2
p.P731S
c.2191C>T
1 paper
NM_001123385.2
p.L729F
c.2187G>T
1 paper
NM_001123385.2
p.L729F
c.2187G>C
1 paper
NM_001123385.2
p.P731fs
c.2191_2192fs
1 paper
NM_001123385.2
p.P731delFs
c.2192delG
1 paper
NM_001123385.2
p.H732Y
c.2194C>T
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.T733R
c.2198C>G
1 paper
NM_001123385.2
p.T733T
c.2199G>A
1 paper
NM_001123385.2
p.P727T
c.2179C>A
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