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

3 papers

NM_001386298.1

p.R528*

c.1582C>T

Surrounding Variants

2 papers

NM_001386298.1

p.R523H

c.1568G>A

1 paper

NM_001386298.1

p.L535_A536insA

c.1603_1607ins3

1 paper

NM_001386298.1

p.R518del1

c.1552_1554delCGA

1 paper

NM_001386298.1

p.R517_S526del10

c.1549_1577del30

1 paper

NM_001386298.1

p.G541G

c.1623C>G

2 papers

NM_001386298.1

p.G544R

c.1630G>C

1 paper

NM_001386298.1

p.P546A

c.1636C>G

1 paper

NM_001386298.1

p.G510_C511delFs

c.1529_1532del4

1 paper

NM_001386298.1

p.D509delFs

c.1526delA

1 paper

NM_001386298.1

p.A547V

c.1640C>T

1 paper

NM_001386298.1

p.A550V

c.1649C>T

1 paper

NM_001386298.1

p.G499R

c.1495G>C