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.L1130fs

c.3388_3389fs

Surrounding Variants

1 paper

NM_001123385.2

p.R1131fs

c.3391_3392fs

7 papers

NM_001123385.2

p.R1131W

c.3391C>T

3 papers

NM_001123385.2

p.R1131L

c.3392G>T

2 papers

NM_001123385.2

p.R1131Q

c.3392G>A

1 paper

NM_001123385.2

p.T1129I

c.3386C>T

1 paper

NM_001123385.2

p.R1131insFs

c.3392_3393insG

1 paper

NM_001123385.2

p.V1132E

c.3395T>A

1 paper

NM_001123385.2

p.P1128delFs

c.3384delG

1 paper

NM_001123385.2

p.P1128fs

c.3382_3383fs

1 paper

NM_001123385.2

p.P1128S

c.3382C>T

1 paper

NM_001123385.2

p.S1127N

c.3380G>A

1 paper

NM_001123385.2

p.D1133_R1134del2

c.3397_3401del6