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.S20delFs

c.59delC

Surrounding Variants

1 paper

NM_001386298.1

p.S18G

c.52A>G

1 paper

NM_001386298.1

p.G13D

c.38G>A

1 paper

NM_001386298.1

p.K27M

c.80A>T

1 paper

NM_001386298.1

p.A28T

c.82G>A

2 papers

NM_001386298.1

p.G10S

c.28G>A

1 paper

NM_001386298.1

p.R31Q

c.92G>A

1 paper

NM_001386298.1

p.R31L

c.92G>T

2 papers

NM_001386298.1

p.K6_C8insFs

c.18_24dup7

1 paper

NM_001386298.1

p.A34V

c.101C>T

1 paper

NM_001386298.1

p.M4I

c.12G>A

1 paper

NM_001386298.1

p.M4I

c.12G>C

1 paper

NM_001386298.1

p.M1insFs

c.1_2insT