Varaico: Literature-Extracted Genetic Variants

Gene:BCOR
Variant:p.S1143insFs

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
3 papers
NM_001123385.2
p.S1143insFs
c.3427_3428insA
Surrounding Variants
1 paper
NM_001123385.2
p.S1143R
c.3429C>G
1 paper
NM_001123385.2
p.S1143R
c.3429C>A
2 papers
NM_001123385.2
p.S1143fs
c.3427_3428fs
1 paper
NM_001123385.2
p.S1143R
c.3427A>C
1 paper
NM_001123385.2
p.S1142R
c.3426C>G
1 paper
NM_001123385.2
p.S1142R
c.3426C>A
1 paper
NM_001123385.2
p.S1142R
c.3424A>C
1 paper
NM_001123385.2
p.G1140D
c.3419G>A
5 papers
NM_001123385.2
p.R1136_S1139del4
c.3406_3416del12
1 paper
NM_001123385.2
p.T1147I
c.3440C>T
1 paper
NM_001123385.2
p.V1138A
c.3413T>C
1 paper
NM_001123385.2
p.R1136_V1138delFs
c.3408_3412del5
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