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.C444F

c.1331G>T

Surrounding Variants

1 paper

NM_001386298.1

p.G451A

c.1352G>C

1 paper

NM_001386298.1

p.S459delins

c.1376_1377delinsTT

1 paper

NM_001386298.1

p.P426H

c.1277C>A

2 papers

NM_001386298.1

p.G463_T464insFs

c.1389_1390insT

1 paper

NM_001386298.1

p.T464insFs

c.1390_1391insT

2 papers

NM_001386298.1

p.L422L

c.1264C>T

1 paper

NM_001386298.1

p.L421insFs

c.1262_1263insC

1 paper

NM_001386298.1

p.R469G

c.1405C>G

1 paper

NM_001386298.1

p.Q420insFs

c.1258_1259insC

1 paper

NM_001386298.1

p.R471H

c.1412G>A

1 paper

NM_001386298.1

p.P415S

c.1243C>T

1 paper

NM_001386298.1

p.Q479_G484delFs

c.1437_1450del14