Varaico: Literature-Extracted Genetic Variants

Gene:CCDC50
Variant:p.D295Y

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
2 papers
NM_178335.3
p.D295Y
c.883G>T
Surrounding Variants
1 paper
NM_178335.3
p.E300K
c.898G>A
1 paper
NM_178335.3
p.E300delFs
c.900delG
1 paper
NM_178335.3
p.E289_V291insFs
c.866_873dup8
5 papers
NM_178335.3
p.K303R
c.908A>G
1 paper
NM_178335.3
p.S279S
c.837C>G
1 paper
NM_178335.3
p.P277delFs
c.829_830delCC
1 paper
NM_178335.3
p.S276A
c.826T>G
1 paper
NM_178335.3
p.S276_H286delFs
c.828_858del31
1 paper
NM_178335.3
p.L275F
c.823C>T
1 paper
NM_178335.3
p.R274Q
c.821G>A
3 papers
NM_178335.3
p.R274*
c.820C>T
1 paper
NM_178335.3
p.L320V
c.958C>G
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