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PRNP c.364_366delinsATC ;(p.V122I)
Variant ID: 20-4680230-GTG-ATC
NM_000311.3(
PRNP
):c.364_366delinsATC;(p.V122I)
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:
Treating Protein Misfolding Diseases: Therapeutic Successes Against Systemic Amyloidoses.
Frontiers In Pharmacology
Nevone, Alice A; Merlini, Giampaolo G; Nuvolone, Mario M
Publication Date: 2020
Variant appearance in text: PRNP: Val122Ile
PubMed Link:
32754033
Variant Present in the following documents:
Main text
fphar-11-01024.pdf
View BVdb publication page
2016 Annual Meetings.
Annals Of Neurology
Publication Date: 2016-10
Variant appearance in text: CJD: V122i
PubMed Link:
27739587
Variant Present in the following documents:
ANA-80-S1.pdf
View BVdb publication page