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PRNP c.496_498delinsTGT ;(p.M166C)
Variant ID: 20-4680362-ATG-TGT
NM_000311.3(
PRNP
):c.496_498delinsTGT;(p.M166C)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
The landscape of the prion protein's structural response to mutation revealed by principal component analysis of multiple NMR ensembles.
Plos Computational Biology
Gendoo, Deena M A DM; Harrison, Paul M PM
Publication Date: 2012
Variant appearance in text: CJD: M166C
PubMed Link:
22912570
Variant Present in the following documents:
Main text
pcbi.1002646.pdf
View BVdb publication page
Searching for factors that distinguish disease-prone and disease-resistant prions via sequence analysis.
Bioinformatics And Biology Insights
Kedarisetti, Kanaka Durga KD; Dick, Scott S; Kurgan, Lukasz L
Publication Date: 2008-03-12
Variant appearance in text: CJD: M166C
PubMed Link:
19812771
Variant Present in the following documents:
Main text
bbi-2008-133.pdf
View BVdb publication page