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.A67T

c.199G>A

Surrounding Variants

1 paper

NM_001386298.1

p.E66_A73del0

c.198_218del21

2 papers

NM_001386298.1

p.R69Q

c.206G>A

1 paper

NM_001386298.1

p.E64Q

c.190G>C

1 paper

NM_001386298.1

p.E61D

c.183A>C

1 paper

NM_001386298.1

p.G72E

c.215G>A

1 paper

NM_001386298.1

p.E61G

c.182A>G

1 paper

NM_001386298.1

p.E61V

c.182A>T

1 paper

NM_001386298.1

p.P76H

c.227C>A

1 paper

NM_001386298.1

p.E79K

c.235G>A

1 paper

NM_001386298.1

p.P52R

c.155C>G

1 paper

NM_001386298.1

p.D84G

c.251A>G

1 paper

NM_001386298.1

p.A86V

c.257C>T