Varaico: Literature-Extracted Genetic Variants

Gene:CCDC50
Variant:p.R166R

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.R166R
c.498A>G
Surrounding Variants
1 paper
NM_178335.3
p.S165L
c.494C>T
1 paper
NM_178335.3
p.D173G
c.518A>G
1 paper
NM_178335.3
p.R156S
c.468G>C
1 paper
NM_178335.3
p.R156S
c.468G>T
1 paper
NM_178335.3
p.P184A
c.550C>G
1 paper
NM_178335.3
p.L191V
c.571T>G
1 paper
NM_178335.3
p.E192G
c.575A>G
1 paper
NM_178335.3
p.E193K
c.577G>A
1 paper
NM_178335.3
p.Q196P
c.587A>C
1 paper
NM_178335.3
p.S199L
c.596C>T
1 paper
NM_178335.3
p.S207C
c.620C>G
3 papers
NM_178335.3
p.H217H
c.651T>C
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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."