Varaico: Literature-Extracted Genetic Variants

Gene:BCOR
Variant:p.F383fs

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.F383fs
c.1147_1148fs
Surrounding Variants
1 paper
NM_001123385.2
p.F383delFs
c.1148delA
1 paper
NM_001123385.2
p.E382G
c.1145A>G
1 paper
NM_001123385.2
p.P384T
c.1150C>A
1 paper
NM_001123385.2
p.S381fs
c.1141_1142fs
1 paper
NM_001123385.2
p.A385S
c.1153G>T
1 paper
NM_001123385.2
p.S381fs
c.1141_1142fs
1 paper
NM_001123385.2
p.A385V
c.1154C>T
5 papers
NM_001123385.2
p.V379_S380delFs
c.1136_1139del4
1 paper
NM_001123385.2
p.A385fs
c.1153_1154fs
1 paper
NM_001123385.2
p.A385delFs
c.1154delG
1 paper
NM_001123385.2
p.S380delFs
c.1138delT
1 paper
NM_001123385.2
p.V379delFs
c.1137delA
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