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.L314delFs

c.940_941delCT

Surrounding Variants

1 paper

NM_001386298.1

p.S313insFs

c.938_939insCT

1 paper

NM_001386298.1

p.L314_P317del4

c.940_950del12

1 paper

NM_001386298.1

p.P317S

c.949C>T

1 paper

NM_001386298.1

p.P308S

c.922C>T

1 paper

NM_001386298.1

p.Q307*

c.919C>T

1 paper

NM_001386298.1

p.L321Q

c.962T>A

1 paper

NM_001386298.1

p.G303S

c.907G>A

1 paper

NM_001386298.1

p.E326*

c.976G>T

1 paper

NM_001386298.1

p.L300L

c.900C>A

2 papers

NM_001386298.1

p.V298I

c.892G>A

1 paper

NM_001386298.1

p.K297R

c.890A>G

1 paper

NM_001386298.1

p.A295V

c.884C>T