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PRNP c.498G>C ;(p.M166I)
Variant ID: 20-4680364-G-C
NM_000311.3(
PRNP
):c.498G>C;(p.M166I)
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:
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: M166I
PubMed Link:
32958805
Variant Present in the following documents:
41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page
Identification of Prion Disease-Related Somatic Mutations in the Prion Protein Gene (PRNP) in Cancer Patients.
Cells
Kim, Yong-Chan YC; Won, Sae-Young SY; Jeong, Byung-Hoon BH
Publication Date: 2020-06-17
Variant appearance in text: PRNP: M166I
PubMed Link:
32560489
Variant Present in the following documents:
Main text
cells-09-01480.pdf
View BVdb publication page