Varaico: Literature-Extracted Genetic Variants

Gene:BCOR
Variant:p.N1511fs

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.N1511fs
c.4531_4532fs
Surrounding Variants
2 papers
NM_017745.6
p.W1475*
c.4425G>A
NM_001123385.2
p.W1509*
c.4527G>A
2 papers
NM_017745.6
p.W1475*
c.4424G>A
NM_001123385.2
p.W1509*
c.4526G>A
17 papers
NM_001123385.2
p.R1514*
c.4540C>T
NM_017745.6
p.R1480*
c.4438C>T
1 paper
NM_001123385.2
p.W1509R
c.4525T>C
1 paper
NM_001123385.2
p.W1509R
c.4525T>A
3 papers
NM_001123385.2
p.R1514insFs
c.4541_4542ins4
1 paper
NM_001123385.2
p.R1514Q
c.4541G>A
1 paper
NM_001123383.1
p.A1472_R1480delFs
c.4416_4438del23
1 paper
NM_001123385.2
p.G1508insFs
c.4523dupG
1 paper
NM_001123385.2
p.H1515R
c.4544A>G
1 paper
NM_001123385.2
p.R1507S
c.4521G>T
1 paper
NM_001123385.2
p.R1507S
c.4521G>C
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