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PRNP c.323A>T ;(p.N108I)
Variant ID: 20-4680189-A-T
NM_000311.3(
PRNP
):c.323A>T;(p.N108I)
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:
Cellular prion protein: from physiology to pathology.
Viruses
Yusa, Sei-ichi S; Oliveira-Martins, José B JB; Sugita-Konishi, Yoshiko Y; Kikuchi, Yutaka Y
Publication Date: 2012-11-14
Variant appearance in text: CJD: N108I
PubMed Link:
23202518
Variant Present in the following documents:
Main text
View BVdb publication page
Signal sequence insufficiency contributes to neurodegeneration caused by transmembrane prion protein.
The Journal Of Cell Biology
Rane, Neena S NS; Chakrabarti, Oishee O; Feigenbaum, Lionel L; Hegde, Ramanujan S RS
Publication Date: 2010-02-22
Variant appearance in text: PRNP: N108I
PubMed Link:
20156965
Variant Present in the following documents:
JCB_200911115.pdf
View BVdb publication page