Varaico: Literature-Extracted Genetic Variants

Gene:CCDC88C
Variant:p.I54Splc

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.I54Splc
c.161+5G>A
Surrounding Variants
1 paper
NM_001080414.4
p.L47fs
c.139_140fs
2 papers
NM_001080414.4
p.I45M
c.135C>G
7 papers
NM_001080414.4
p.D43N
c.127G>A
1 paper
NM_001080414.4
p.S29I
c.86G>T
1 paper
NM_001080414.4
p.V21L
c.61G>T
1 paper
NM_001080414.4
p.V21L
c.61G>C
1 paper
NM_001080414.4
p.W20_V21Splc
c.61-307T>C
1 paper
NM_001080414.4
p.S15T
c.44G>C
1 paper
NM_001080414.4
p.L11F
c.31C>T
1 paper
NM_001080414.4
p.S6insFs
c.16dupT
1 paper
NM_001080414.4
p.M1_D2ins1
c.3_4insCAG
1 paper
NM_001080414.4
p.M1L
c.1A>C
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