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.D84G

c.251A>G

Surrounding Variants

1 paper

NM_001386298.1

p.A86V

c.257C>T

1 paper

NM_001386298.1

p.E79K

c.235G>A

1 paper

NM_001386298.1

p.P76H

c.227C>A

1 paper

NM_001386298.1

p.K94R

c.281A>G

1 paper

NM_001386298.1

p.G95G

c.285G>C

1 paper

NM_001386298.1

p.G72E

c.215G>A

2 papers

NM_001386298.1

p.R69Q

c.206G>A

1 paper

NM_001386298.1

p.G100S

c.298G>A

1 paper

NM_001386298.1

p.G100V

c.299G>T

1 paper

NM_001386298.1

p.R101H

c.302G>A

1 paper

NM_001386298.1

p.A67T

c.199G>A

1 paper

NM_001386298.1

p.E66_A73del0

c.198_218del21