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.A1312V

c.3935C>T

Surrounding Variants

1 paper

NM_001386298.1

p.L1319_A1320ins2

c.3957_3958ins6

1 paper

NM_001386298.1

p.R1324W

c.3970C>T

1 paper

NM_001386298.1

p.R1331*

c.3991C>T

1 paper

NM_001386298.1

p.R1331insFs

c.3992_3993insA

1 paper

NM_001386298.1

p.R1334C

c.4000C>T

1 paper

NM_001386298.1

p.S1335fs

c.4003_4004fs

1 paper

NM_001386298.1

p.Q1336ins2

c.4006_4007ins6

1 paper

NM_001386298.1

p.Q1336*

c.4006C>T

1 paper

NM_015125.5

p.Q378_M379Splc

c.1135-1G>A

1 paper

NM_001386298.1

p.R1349H

c.4046G>A

1 paper

NM_001386298.1

p.A1363Splc

c.4087+5G>A

1 paper

NM_015125.5

p.S370fs

c.1108_1109fs