Varaico: Literature-Extracted Genetic Variants

Gene:CCDC88C
Variant:p.D873fs

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
1 paper
NM_001080414.4
p.D873fs
c.2617_2618fs
Surrounding Variants
1 paper
NM_001080414.4
p.D873G
c.2618A>G
1 paper
NM_001080414.4
p.D873delFs
c.2617delC
1 paper
NM_001080414.4
p.E875Q
c.2623G>C
1 paper
NM_001080414.4
p.D881E
c.2643C>G
1 paper
NM_001080414.4
p.D881E
c.2643C>A
1 paper
NM_001080414.4
p.G884S
c.2650G>A
1 paper
NM_001080414.4
p.K861Q
c.2581A>C
1 paper
NM_001080414.4
p.R894Q
c.2681G>A
1 paper
NM_001080414.4
p.D852H
c.2554G>C
1 paper
NM_001080414.4
p.L910R
c.2729T>G
1 paper
NM_001080414.4
p.L837M
c.2509C>A
1 paper
NM_001080414.4
p.E831K
c.2491G>A
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."