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.A944T

c.2830G>A

Surrounding Variants

1 paper

NM_001123385.2

p.A944insFs

c.2831_2832dupCT

1 paper

NM_001123385.2

p.T938_A944del0

c.2812_2832del21

1 paper

NM_001123385.2

p.D942E

c.2826T>G

1 paper

NM_001123385.2

p.D942E

c.2826T>A

1 paper

NM_001123385.2

p.D945fs

c.2833_2834fs

1 paper

NM_001123385.2

p.D942Y

c.2824G>T

1 paper

NM_001123385.2

p.D945_E946insFs

c.2835_2836insT

1 paper

NM_001123385.2

p.E946fs

c.2836_2837fs

1 paper

NM_001123385.2

p.K941*

c.2821A>T

2 papers

NM_001123385.2

p.T940fs

c.2818_2819fs

1 paper

NM_001123385.2

p.P937_Y939del3

c.2809_2816del9

1 paper

NM_001123385.2

p.E948fs

c.2842_2843fs