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

2 papers

NM_001123385.2

p.S1223fs

c.3667_3668fs

Surrounding Variants

1 paper

NM_001123385.2

p.S1223L

c.3668C>T

1 paper

NM_001123385.2

p.S1223W

c.3668C>G

1 paper

NM_001123385.2

p.S1223*

c.3668C>A

4 papers

NM_001123385.2

p.S1223delFs

c.3668delG

1 paper

NM_001123385.2

p.V1222L

c.3664G>T

1 paper

NM_017745.6

p.R1183_Q1187insFs

c.3549_3561dup13

1 paper

NM_001123385.2

p.V1222L

c.3664G>C

1 paper

NM_001123385.2

p.A1224T

c.3670G>A

1 paper

NM_017745.6

p.V1188fs

c.3562_3563fs

1 paper

NM_001123385.2

p.S1223_A1225delFs

c.3669_3673del5

1 paper

NM_001123385.2

p.Q1220R

c.3659A>G

1 paper

NM_001123385.2

p.D1226fs

c.3676_3677fs