Varaico: Literature-Extracted Genetic Variants

Gene:BCOR
Variant:p.S185N

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.S185N
c.554G>A
Surrounding Variants
2 papers
NM_001123385.2
p.S185G
c.553A>G
1 paper
NM_001123385.2
p.A184insFs
c.551dupC
1 paper
NM_001123385.2
p.Y186H
c.556T>C
1 paper
NM_001123385.2
p.A184A
c.552T>C
1 paper
NM_001123385.2
p.Y186fs
c.556_557fs
2 papers
NM_001123385.2
p.A184V
c.551C>T
1 paper
NM_001123385.2
p.L187L
c.559C>T
1 paper
NM_001123385.2
p.Y186delFs
c.557_558delAT
1 paper
NM_001123385.2
p.G183S
c.547G>A
3 papers
NM_001123385.2
p.R188W
c.562C>T
2 papers
NM_001123385.2
p.N182S
c.545A>G
1 paper
NM_001123385.2
p.R188fs
c.562_563fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."