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

2 papers

NM_001386298.1

p.P631L

c.1892C>T

Surrounding Variants

2 papers

NM_001386298.1

p.S632A

c.1894T>G

1 paper

NM_001386298.1

p.F637del1

c.1909_1911delTTC

1 paper

NM_001386298.1

p.N648_R655del8

c.1942_1964del24

1 paper

NM_001386298.1

p.Q654insFs

c.1960_1961ins5

1 paper

NM_001386298.1

p.R659H

c.1976G>A

1 paper

NM_001386298.1

p.L603M

c.1807C>A

1 paper

NM_001386298.1

p.L603L

c.1807C>T

1 paper

NM_001386298.1

p.S660delFs

c.1979delG

1 paper

NM_001386298.1

p.V601M

c.1801G>A

1 paper

NM_001386298.1

p.F594Y

c.1781T>A

1 paper

NM_001386298.1

p.A670_V672delFs

c.2010_2014del5

1 paper

NM_001386298.1

p.P581S

c.1741C>T