Varaico: Literature-Extracted Genetic Variants

Gene:CCDC88C
Variant:p.R312*

CCDC88C

226 papers

RefSeq Summary

This gene encodes a ubiquitously expressed coiled-coil domain-containing protein that interacts with the dishevelled protein and is a negative regulator of the Wnt signalling pathway. The protein enco...

Pfam Domains

HOOK_Naa 13–161UCSCHOOK domain

Gene Aliases

HGNC Name

coiled-coil and HOOK domain protein 88C

HGNC Previous Symbol

KIAA1509

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
7 papers
NM_001080414.4
p.R312*
c.934C>T
Surrounding Variants
2 papers
NM_001080414.4
p.R312Q
c.935G>A
1 paper
NM_001080414.4
p.Y311H
c.931T>C
1 paper
NM_001080414.4
p.R309H
c.926G>A
1 paper
NM_001080414.4
p.R306W
c.916C>T
1 paper
NM_001080414.4
p.L318Q
c.953T>A
1 paper
NM_001080414.4
p.R324H
c.971G>A
3 papers
NM_001080414.4
p.V325L
c.973G>T
3 papers
NM_001080414.4
p.V325L
c.973G>C
1 paper
NM_001080414.4
p.D341N
c.1021G>A
1 paper
NM_001080414.4
p.D343E
c.1029C>G
1 paper
NM_001080414.4
p.D343E
c.1029C>A
1 paper
NM_001080414.4
p.E297_N298Splc
c.891+7C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."