Varaico: Literature-Extracted Genetic Variants

Gene:CCDC88C
Variant:p.L439L

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.L439L
c.1317G>A
Surrounding Variants
1 paper
NM_001080414.4
p.A443T
c.1327G>A
1 paper
NM_001080414.4
p.E435E
c.1305G>A
1 paper
NM_001080414.4
p.G433S
c.1297G>A
1 paper
NM_001080414.4
p.V417F
c.1249G>T
1 paper
NM_001080414.4
p.R407*
c.1219C>T
1 paper
NM_001080414.4
p.K406E
c.1216A>G
1 paper
NM_001080414.4
p.H395H
c.1185C>T
1 paper
NM_001080414.4
p.K393*
c.1177A>T
1 paper
NM_001080414.4
p.Q389R
c.1166A>G
2 papers
NM_001080414.4
p.E386D
c.1158G>T
2 papers
NM_001080414.4
p.E386D
c.1158G>C
1 paper
NM_001080414.4
p.K385fs
c.1153_1154fs
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