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.V286A

c.857T>C

Surrounding Variants

1 paper

NM_001386298.1

p.V286E

c.857T>A

1 paper

NM_001386298.1

p.G284R

c.850G>C

1 paper

NM_001386298.1

p.R282G

c.844C>G

1 paper

NM_001386298.1

p.R282W

c.844C>T

1 paper

NM_001386298.1

p.A295_V298delFs

c.884_893del10

1 paper

NM_001386298.1

p.A295V

c.884C>T

1 paper

NM_001386298.1

p.K297R

c.890A>G

2 papers

NM_001386298.1

p.V298I

c.892G>A

1 paper

NM_001386298.1

p.V274delFs

c.820_821delGT

1 paper

NM_001386298.1

p.L300L

c.900C>A

1 paper

NM_001386298.1

p.G303S

c.907G>A

1 paper

NM_001386298.1

p.Q307*

c.919C>T