Varaico: Literature-Extracted Genetic Variants

Gene:BCOR
Variant:p.Q1399fs

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_017745.6
p.Q1399fs
c.4195_4196fs
Surrounding Variants
1 paper
NM_001123385.2
p.S1429_T1432delFs
c.4285_4295del11
1 paper
NM_017745.6
p.Q1399delFs
c.4195_4196delTG
1 paper
NM_001123385.2
p.S1429_Q1433delFs
c.4286_4298del13
1 paper
NM_017745.6
p.L1400delFs
c.4200delC
1 paper
NM_017745.6
p.P1401fs
c.4201_4202fs
1 paper
NM_001123385.2
p.P1435L
c.4304C>T
1 paper
NM_001123385.2
p.P1435fs
c.4303_4304fs
2 papers
NM_001123385.2
p.Q1430*
c.4288C>T
1 paper
NM_001123385.2
p.C1436delFs
c.4308delG
1 paper
NM_001123385.2
p.P1435_C1436delFs
c.4303_4307del5
1 paper
NM_001123385.2
p.A1428fs
c.4282_4283fs
2 papers
NM_001123385.2
p.S1439fs
c.4315_4316fs
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