Varaico: Literature-Extracted Genetic Variants

CIC

260 papers

RefSeq Summary

The protein encoded by this gene is an ortholog of the Drosophila melanogaster capicua gene, and is a member of the high mobility group (HMG)-box superfamily of transcriptional repressors. This protei...

Pfam Domains

Cicaa 251–349UCSCProtein capicua homolog-like domain

HMG_boxaa 1109–1177UCSCHMG (high mobility group) box

HTH_Cic_Caa 2374–2428UCSCProtein capicua homolog-like, C-terminal tri-helical domain

Gene Aliases

HGNC Name

capicua transcriptional repressor

HGNC Alias Symbol

KIAA0306

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001386298.1

p.R775insFs

c.2323dupC

Surrounding Variants

1 paper

NM_001386298.1

p.R775insFs

c.2324_2325ins8

1 paper

NM_001386298.1

p.S776A

c.2326T>G

4 papers

NM_001386298.1

p.R777delFs

c.2330delG

1 paper

NM_001386298.1

p.P787delFs

c.2359delC

1 paper

NM_001386298.1

p.P788S

c.2362C>T

1 paper

NM_001386298.1

p.G790S

c.2368G>A

1 paper

NM_001386298.1

p.T792A

c.2374A>G

1 paper

NM_001386298.1

p.T792I

c.2375C>T

1 paper

NM_001386298.1

p.K741K

c.2223G>A

1 paper

NM_001386298.1

p.P737S

c.2209C>T

2 papers

NM_001386298.1

p.G731R

c.2191G>A

2 papers

NM_001386298.1

p.G731R

c.2191G>C