Varaico: Literature-Extracted Genetic Variants

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.P681fs

c.2041_2042fs

Surrounding Variants

1 paper

NM_001123385.2

p.H682fs

c.2044_2045fs

1 paper

NM_001123385.2

p.H682L

c.2045A>T

1 paper

NM_001123385.2

p.Y680*

c.2040C>G

1 paper

NM_001123385.2

p.H682fs

c.2044_2045fs

1 paper

NM_001123385.2

p.H682insFs

c.2045_2046insAT

1 paper

NM_001123385.2

p.Y680*

c.2040C>A

1 paper

NM_001123385.2

p.G675_Y680delFs

c.2023_2039del17

1 paper

NM_001123385.2

p.V679_Y680insFs

c.2037_2038dupCT

8 papers

NM_001123385.2

p.V679I

c.2035G>A

1 paper

NM_001123385.2

p.P683_V684del2

c.2047_2051del6

1 paper

NM_001123385.2

p.L685S

c.2054T>C

8 papers

NM_001123385.2

p.P678S

c.2032C>T