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.R340delFs

c.1020delC

Surrounding Variants

1 paper

NM_001386298.1

p.P342S

c.1024C>T

2 papers

NM_001386298.1

p.L338L

c.1012C>T

1 paper

NM_001386298.1

p.S335S

c.1005C>T

1 paper

NM_001386298.1

p.P352T

c.1054C>A

1 paper

NM_001386298.1

p.E326*

c.976G>T

1 paper

NM_001386298.1

p.G355S

c.1063G>A

1 paper

NM_001386298.1

p.G355R

c.1063G>C

1 paper

NM_001386298.1

p.E357*

c.1069G>T

1 paper

NM_001386298.1

p.L321Q

c.962T>A

1 paper

NM_001386298.1

p.P317S

c.949C>T

1 paper

NM_001386298.1

p.L367insFs

c.1100dupT

1 paper

NM_001386298.1

p.L314delFs

c.940_941delCT