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

1–12 of 359 variants

4 papers

NM_001386298.1

p.R777delFs

c.2330delG

4 papers

NM_015125.5

p.R353*

c.1057C>T

3 papers

NM_001386298.1

p.R528*

c.1582C>T

3 papers

NM_001386298.1

p.R1183*

c.3547C>T

2 papers

NM_001386298.1

p.K6_C8insFs

c.18_24dup7

2 papers

NM_001386298.1

p.G10S

c.28G>A

2 papers

NM_001386298.1

p.R69Q

c.206G>A

2 papers

NM_001386298.1

p.R140Q

c.419G>A

2 papers

NM_001386298.1

p.L202L

c.604C>T

2 papers

NM_001386298.1

p.V286A

c.857T>C

2 papers

NM_001386298.1

p.V298I

c.892G>A

2 papers

NM_001386298.1

p.L338L

c.1012C>T