Varaico: Literature-Extracted Genetic Variants

Gene:BCOR
Variant:p.E401K

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.E401K
c.1201G>A
Surrounding Variants
3 papers
NM_001123385.2
p.G400fs
c.1198_1199fs
1 paper
NM_001123385.2
p.G400delFs
c.1198delC
1 paper
NM_001123385.2
p.G400D
c.1199G>A
1 paper
NM_001123385.2
p.G400fs
c.1198_1199fs
1 paper
NM_001123385.2
p.A403V
c.1208C>T
1 paper
NM_001123385.2
p.E398*
c.1192G>T
1 paper
NM_001123385.2
p.E398_G399insAC
c.1192_1196ins6
3 papers
NM_001123385.2
p.Q404fs
c.1210_1211fs
3 papers
NM_001123385.2
p.Q404*
c.1210C>T
1 paper
NM_001123385.2
p.P397P
c.1191G>A
1 paper
NM_001123385.2
p.A403delFs
c.1209delG
3 papers
NM_001123385.2
p.A403_Q404delFs
c.1209_1210delGG
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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."