Varaico: Literature-Extracted Genetic Variants

Gene:CCDC50
Variant:p.W254R

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.W254R
c.760T>C
Surrounding Variants
1 paper
NM_178335.3
p.E255G
c.764A>G
1 paper
NM_178335.3
p.I258V
c.772A>G
4 papers
NM_178335.3
p.I258N
c.773T>A
1 paper
NM_178335.3
p.N259_H260ins1
c.777_778insTAA
1 paper
NM_178335.3
p.N259_H260insFs
c.777_778ins4
1 paper
NM_178335.3
p.W265S
c.794G>C
1 paper
NM_178335.3
p.Q268R
c.803A>G
1 paper
NM_178335.3
p.L237L
c.711G>C
1 paper
NM_178335.3
p.L237V
c.709C>G
3 papers
NM_178335.3
p.R274*
c.820C>T
1 paper
NM_178335.3
p.R274Q
c.821G>A
1 paper
NM_178335.3
p.L275F
c.823C>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."