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.Q894H

c.2682G>T

Surrounding Variants

1 paper

NM_001386298.1

p.Q894H

c.2682G>C

1 paper

NM_001386298.1

p.F898insFs

c.2694dupC

1 paper

NM_001386298.1

p.P900L

c.2699C>T

1 paper

NM_001386298.1

p.A904T

c.2710G>A

1 paper

NM_001386298.1

p.A885P

c.2653G>C

1 paper

NM_001386298.1

p.P873S

c.2617C>T

1 paper

NM_001386298.1

p.V924D

c.2771T>A

1 paper

NM_001386298.1

p.P860T

c.2578C>A

1 paper

NM_001386298.1

p.P857_P860Fs

c.2571_2579delinsCFs

1 paper

NM_001386298.1

p.P849delFs

c.2545delC

1 paper

NM_001386298.1

p.L820_P821del2

c.2458_2462del6

1 paper

NM_001386298.1

p.T792I

c.2375C>T