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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CCDC50

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 117 variants

5 papers

chr3:191375521 A>G

NM_178335.3

p.K303R

c.908A>G

Exome: 40.1% (AC=585360, hom=119288)Genome: 48.3% (AC=73360, hom=18914)20 overlapping SVs

5 papers

chr3:191380177 T>C

NM_178335.3

p.M332T

c.995T>C

Exome: 47.8% (AC=687415, hom=169058)Genome: 57.7% (AC=86996, hom=26808)20 overlapping SVs

4 papers

chr3:191358112 G>A

NM_178335.3

p.R76H

c.227G>A

CCDC50_N

Exome: 0.1% (AC=926, hom=0)Genome: 0.0% (AC=61, hom=0)21 overlapping SVs

4 papers

chr3:191358113 C>T

NM_178335.3

p.R76R

c.228C>T

CCDC50_N

Exome: 30.9% (AC=451791, hom=70808)Genome: 29.9% (AC=45414, hom=6804)21 overlapping SVs

4 papers

chr3:191369951 A>C

NM_178335.3

p.L121F

c.363A>C

CCDC50_N

exact variant not in gnomAD20 overlapping SVs

4 papers

chr3:191369951 A>T

NM_178335.3

p.L121F

c.363A>T

CCDC50_N

Exome: 4.3% (AC=63343, hom=1521)Genome: 3.2% (AC=4948, hom=113)20 overlapping SVs

4 papers

chr3:191375386 T>A

NM_178335.3

p.I258N

c.773T>A

Exome: 40.1% (AC=585516, hom=119314)Genome: 48.3% (AC=73464, hom=18937)20 overlapping SVs

3 papers

chr3:191357084 C>G

NM_178335.3

p.V17Splc

c.50-4C>G

Exome: 54.5% (AC=786813, hom=222768)Genome: 65.1% (AC=99011, hom=34148)21 overlapping SVs

3 papers

chr3:191375264 T>C

NM_178335.3

p.H217H

c.651T>C

Exome: 40.1% (AC=585556, hom=119346)Genome: 48.3% (AC=73456, hom=18933)20 overlapping SVs

3 papers

chr3:191375291 A>G

NM_178335.3

p.K226K

c.678A>G

Exome: 9.0% (AC=131291, hom=8790)Genome: 17.8% (AC=27097, hom=4038)20 overlapping SVs

3 papers

chr3:191375433 C>T

NM_178335.3

p.R274*

c.820C>T

Exome: 0.0% (AC=101, hom=0)Genome: 0.0% (AC=8, hom=0)20 overlapping SVs

3 papers

chr3:191382772 C>A

NM_178335.3

p.S423S

c.1269C>A

Exome: 48.0% (AC=699552, hom=172218)Genome: 57.8% (AC=87788, hom=27042)20 overlapping SVs

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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."