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PRNP c.53A>G ;(p.D18G)
Variant ID: 20-4679919-A-G
NM_000311.3(
PRNP
):c.53A>G;(p.D18G)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Identification of pathogenic missense mutations using protein stability predictors.
Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21
Variant appearance in text: PRNP: D18G
PubMed Link:
32958805
Variant Present in the following documents:
41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page
Luman contributes to brefeldin A-induced prion protein gene expression by interacting with the ERSE26 element.
Scientific Reports
Déry, Marc-André MA; LeBlanc, Andréa C AC
Publication Date: 2017-02-13
Variant appearance in text: PRNP: D18G
PubMed Link:
28205568
Variant Present in the following documents:
Main text
srep42285.pdf
View BVdb publication page
Regulating extracellular proteostasis capacity through the unfolded protein response.
Prion
Genereux, Joseph C JC; Wiseman, R Luke RL
Publication Date: 2015
Variant appearance in text: CJD: D18G
PubMed Link:
25946012
Variant Present in the following documents:
Main text
View BVdb publication page