Varaico: Literature-Extracted Genetic Variants

Gene:CCDC50
Variant:p.S423S

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
3 papers
NM_178335.3
p.S423S
c.1269C>A
Surrounding Variants
1 paper
NM_178335.3
p.E427K
c.1279G>A
1 paper
NM_174908.4
p.K259_N260ins1
c.777_778insTAA
1 paper
NM_174908.4
p.K259_N260insFs
c.777_778ins4
1 paper
NM_178335.3
p.R441W
c.1321C>T
1 paper
NM_178335.3
p.R399Q
c.1196G>A
2 papers
NM_178335.3
p.K394R
c.1181A>G
1 paper
NM_178335.3
p.M386V
c.1156A>G
1 paper
NM_178335.3
p.R371G
c.1111A>G
1 paper
NM_178335.3
p.L364L
c.1090T>C
1 paper
NM_178335.3
p.Q359R
c.1076A>G
1 paper
NM_178335.3
p.Q359K
c.1075C>A
1 paper
NM_178335.3
p.A343S
c.1027G>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."