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.V1220L

c.3658G>C

Surrounding Variants

1 paper

NM_001386298.1

p.G1213_T1214ins2

c.3639_3640ins6

1 paper

NM_015125.5

p.K276*

c.826A>T

4 papers

NM_015125.5

p.R274*

c.820C>T

NM_001386298.1

p.R1183*

c.3547C>T

1 paper

NM_001386298.1

p.H1173R

c.3518A>G

1 paper

NM_001386298.1

p.Y1158_H1159insFs

c.3474_3475insAG

1 paper

NM_001386298.1

p.Y1158_H1159ins1

c.3474_3475insAGA

1 paper

NM_015125.5

p.K248fs

c.742_743fs

2 papers

NM_015125.5

p.R228Q

c.683G>A

1 paper

NM_015125.5

p.N227S

c.680A>G

1 paper

NM_015125.5

p.N227I

c.680A>T

1 paper

NM_015125.5

p.Q225*

c.673C>T

1 paper

NM_001386298.1

p.R1124Q

c.3371G>A