Varaico: Literature-Extracted Genetic Variants

Gene:BCOR
Variant:p.R1217fs

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.R1217fs
c.3649_3650fs
Surrounding Variants
1 paper
NM_001123385.2
p.R1217delFs
c.3649delG
4 papers
NM_001123385.2
p.W1218*
c.3653G>A
17 papers
NM_001123385.2
p.R1217*
c.3649C>T
NM_017745.6
p.R1183*
c.3547C>T
1 paper
NM_001123385.2
p.R1217fs
c.3649_3650fs
3 papers
NM_001123385.2
p.W1218*
c.3654G>A
1 paper
NM_001123385.2
p.E1216fs
c.3646_3647fs
1 paper
NM_017745.6
p.Q1186fs
c.3556_3557fs
1 paper
NM_001123385.2
p.Q1220*
c.3658C>T
1 paper
NM_001123384.2
p.R1163*
c.3487A>T
1 paper
NM_001123385.2
p.Q1220R
c.3659A>G
1 paper
NM_001123385.2
p.L1214delFs
c.3641_3642delAA
1 paper
NM_001123385.2
p.H1213delFs
c.3638delT
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