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.A173_E176delFs

c.517_526del10

Surrounding Variants

1 paper

NM_001386298.1

p.E176K

c.526G>A

1 paper

NM_001386298.1

p.A168P

c.502G>C

1 paper

NM_001386298.1

p.P179insFs

c.535_536insA

1 paper

NM_001386298.1

p.S159F

c.476C>T

1 paper

NM_001386298.1

p.P189R

c.566C>G

1 paper

NM_001386298.1

p.P190delins

c.568_569delinsTC

1 paper

NM_001386298.1

p.T193S

c.577A>T

1 paper

NM_001386298.1

p.T193delFs

c.579delC

1 paper

NM_001386298.1

p.T193S

c.578C>G

1 paper

NM_001386298.1

p.S196C

c.586A>T

1 paper

NM_001386298.1

p.P144L

c.431C>T

1 paper

NM_001386298.1

p.Q201*

c.601C>T