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.L408_G409insG

c.1222_1226ins3

Surrounding Variants

1 paper

NM_001386298.1

p.P405S

c.1213C>T

1 paper

NM_001386298.1

p.K403delFs

c.1209delG

1 paper

NM_001386298.1

p.P415S

c.1243C>T

1 paper

NM_001386298.1

p.E398K

c.1192G>A

1 paper

NM_001386298.1

p.E398*

c.1192G>T

1 paper

NM_001386298.1

p.Q420insFs

c.1258_1259insC

1 paper

NM_001386298.1

p.C397Y

c.1190G>A

1 paper

NM_001386298.1

p.L421insFs

c.1262_1263insC

2 papers

NM_001386298.1

p.L422L

c.1264C>T

1 paper

NM_001386298.1

p.P426H

c.1277C>A

1 paper

NM_001386298.1

p.K386M

c.1157A>T

1 paper

NM_001386298.1

p.E380Q

c.1138G>C