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.L1225M

c.3673C>A

Surrounding Variants

1 paper

NM_001386298.1

p.E1223delFs

c.3667_3668delGA

1 paper

NM_001386298.1

p.S1222insFs

c.3665_3666insCT

1 paper

NM_001386298.1

p.S1234R

c.3702C>G

1 paper

NM_015125.5

p.T328fs

c.982_983fs

1 paper

NM_001386298.1

p.P1240L

c.3719C>T

1 paper

NM_001386298.1

p.G1246delFs

c.3737delG

1 paper

NM_001386298.1

p.G1246A

c.3737G>C

2 papers

NM_001386298.1

p.E1248delFs

c.3743delA

1 paper

NM_001386298.1

p.P1261T

c.3781C>A

4 papers

NM_015125.5

p.R353*

c.1057C>T

1 paper

NM_015125.5

p.E367insFs

c.1100dupA

1 paper

NM_015125.5

p.S370fs

c.1108_1109fs