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.G499R

c.1495G>C

Surrounding Variants

1 paper

NM_001386298.1

p.F497L

c.1489T>C

1 paper

NM_001386298.1

p.D509delFs

c.1526delA

1 paper

NM_001386298.1

p.G510_C511delFs

c.1529_1532del4

1 paper

NM_001386298.1

p.D485Y

c.1453G>T

1 paper

NM_001386298.1

p.K482insFs

c.1445_1446insG

1 paper

NM_001386298.1

p.R517_S526del10

c.1549_1577del30

1 paper

NM_001386298.1

p.R518del1

c.1552_1554delCGA

1 paper

NM_001386298.1

p.Q479_G484delFs

c.1437_1450del14

2 papers

NM_001386298.1

p.R523H

c.1568G>A

1 paper

NM_001386298.1

p.R471H

c.1412G>A

3 papers

NM_001386298.1

p.R528*

c.1582C>T

1 paper

NM_001386298.1

p.R469G

c.1405C>G