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_015125.5

p.R202G

c.604C>G

Surrounding Variants

3 papers

NM_015125.5

p.R202W

c.604C>T

NM_001386298.1

p.R1111W

c.3331C>T

2 papers

NM_015125.5

p.R201Q

c.602G>A

NM_001386298.1

p.R1110Q

c.3329G>A

3 papers

NM_015125.5

p.R201W

c.601C>T

NM_001386298.1

p.R1110W

c.3328C>T

1 paper

NM_015125.5

p.N205H

c.613A>C

1 paper

NM_015125.5

p.N205D

c.613A>G

1 paper

NM_015125.5

p.H199fs

c.595_596fs

1 paper

NM_001386298.1

p.I1118_F1119insAC

c.3352_3356ins6

1 paper

NM_015125.5

p.I209S

c.626T>G

1 paper

NM_001386298.1

p.K1103_R1104Splc

c.3310-2A>G

1 paper

NM_015125.5

p.F210L

c.628T>C

1 paper

NM_015125.5

p.F210L

c.630C>A

1 paper

NM_015125.5

p.F210L

c.630C>G