Varaico: Literature-Extracted Genetic Variants

Gene:BCOR
Variant:p.G513fs

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.G513fs
c.1537_1538fs
Surrounding Variants
1 paper
NM_001123385.2
p.P514S
c.1540C>T
3 papers
NM_001123385.2
p.G513_P514insFs
c.1539_1540insG
1 paper
NM_001123385.2
p.P514_S515insT
c.1540_1544ins3
1 paper
NM_001123385.2
p.P514fs
c.1540_1541fs
1 paper
NM_001123385.2
p.P512insFs
c.1536dupC
2 papers
NM_001123385.2
p.G513R
c.1537G>C
2 papers
NM_001123385.2
p.G513R
c.1537G>A
1 paper
NM_001123385.2
p.V511_P512insFs
c.1533_1534ins10
1 paper
NM_001123385.2
p.V511fs
c.1531_1532fs
3 papers
NM_001123385.2
p.P516S
c.1546C>T
1 paper
NM_001123385.2
p.V510G
c.1529T>G
3 papers
NM_001123385.2
p.W509*
c.1527G>A
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