Varaico: Literature-Extracted Genetic Variants

Gene:C1orf50

C1orf50

19 papers

Pfam Domains

DUF2452aa 27–182UCSCProtein of unknown function (DUF2452)

Gene Aliases

HGNC Name

chromosome 1 open reading frame 50

HGNC Alias Symbol

MGC955

Papers
RefSeq ID
Protein change
DNA change
1–12 of 19 variants
3 papers
NM_024097.4
p.T178M
c.533C>T
2 papers
NM_024097.4
p.R71*
c.211C>T
1 paper
NM_024097.4
p.M1V
c.1A>G
1 paper
NM_024097.4
p.E2*
c.4G>T
1 paper
NM_024097.4
p.A5A
c.15C>A
1 paper
NM_024097.4
p.A5A
c.15C>T
1 paper
NM_024097.4
p.P7L
c.20C>T
1 paper
NM_024097.4
p.G27A
c.80G>C
1 paper
NM_024097.4
p.G27A
c.80G>C
1 paper
NM_024097.4
p.G38A
c.113G>C
1 paper
NM_024097.4
p.R71Q
c.212G>A
1 paper
NM_024097.4
p.A72S
c.214G>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."