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.E1081_S1083delFs

c.3243_3249del7

Surrounding Variants

1 paper

NM_001123385.2

p.V1084F

c.3250G>T

1 paper

NM_001123385.2

p.V1084L

c.3250G>C

1 paper

NM_001123385.2

p.S1083I

c.3248G>T

1 paper

NM_001123385.2

p.S1083fs

c.3247_3248fs

1 paper

NM_001123385.2

p.Y1082_S1083insFs

c.3246_3247ins4

2 papers

NM_001123385.2

p.Y1082fs

c.3244_3245fs

1 paper

NM_001123385.2

p.C1080_E1081delFs

c.3239_3243del5

1 paper

NM_001123384.2

p.K1069_H1070delFs

c.3207_3208delGC

1 paper

NM_001123385.2

p.H1088fs

c.3262_3263fs

2 papers

NM_001123385.2

p.C1080*

c.3240C>A

2 papers

NM_001123385.2

p.R1089L

c.3266G>T

1 paper

NM_001123385.2

p.R1089H

c.3266G>A