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.S1189G

c.3565A>G

Surrounding Variants

1 paper

NM_001123385.2

p.S1189insFs

c.3565_3566insC

2 papers

NM_001123385.2

p.S1189N

c.3566G>A

1 paper

NM_001123385.2

p.Y1188C

c.3563A>G

1 paper

NM_001123385.2

p.L1183_H1187insFs

c.3549_3561dup13

1 paper

NM_001123385.2

p.E1190K

c.3568G>A

1 paper

NM_001123385.2

p.E1190insFs

c.3568dupG

1 paper

NM_001123385.2

p.H1187R

c.3560A>G

1 paper

NM_001123385.2

p.D1185fs

c.3553_3554fs

1 paper

NM_001123385.2

p.E1184*

c.3550G>T

1 paper

NM_001123385.2

p.L1194P

c.3581T>C

2 papers

NM_001123385.2

p.L1183*

c.3548T>G

2 papers

NM_001123385.2

p.L1183*

c.3548T>A