Varaico: Literature-Extracted Genetic Variants

Gene:CCDC50
Variant:p.L56delFs

CCDC50

85 papers

RefSeq Summary

This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural...

Pfam Domains

CCDC50_Naa 4–128UCSCCoiled-coil domain-containing protein 50 N-terminus

Gene Aliases

HGNC Name

coiled-coil domain containing 50

HGNC Previous Symbol

DFNA44

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_178335.3
p.L56delFs
c.167delT
Surrounding Variants
1 paper
NM_178335.3
p.L56fs
c.166_167fs
1 paper
NM_178335.3
p.L56R
c.167T>G
1 paper
NM_178335.3
p.D66E
c.198T>A
1 paper
NM_178335.3
p.D66E
c.198T>G
1 paper
NM_178335.3
p.S44S
c.132G>A
1 paper
NM_178335.3
p.Q70delFs
c.208delC
1 paper
NM_178335.3
p.Q74*
c.220C>T
4 papers
NM_178335.3
p.R76H
c.227G>A
4 papers
NM_178335.3
p.R76R
c.228C>T
1 paper
NM_178335.3
p.E37K
c.109G>A
1 paper
NM_178335.3
p.Q36K
c.106C>A
1 paper
NM_178335.3
p.H31Y
c.91C>T
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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."