Bibliome.ai browser hg19
Search
About
Stats
FAQ
PRNP c.49A>G ;(p.S17G)
Variant ID: 20-4679915-A-G
NM_000311.3(
PRNP
):c.49A>G;(p.S17G)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Prion Mutations in Republic of Republic of Korea, China, and Japan.
International Journal Of Molecular Sciences
Kim, Dan Yeong DY; Shim, Kyu Hwan KH; Bagyinszky, Eva E; An, Seong Soo A SSA
Publication Date: 2022-12-30
Variant appearance in text: PRNP: S17G
PubMed Link:
36614069
Variant Present in the following documents:
Main text
ijms-24-00625.pdf
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: S17G
PubMed Link:
32560489
Variant Present in the following documents:
Main text
cells-09-01480.pdf
View BVdb publication page
Early-onset Alzheimer's disease patient with prion (PRNP) p.Val180Ile mutation.
Neuropsychiatric Disease And Treatment
Bagyinszky, Eva E; Kang, Min Ju MJ; Pyun, Jungmin J; Giau, Vo Van VV; An, Seong Soo A SSA; Kim, SangYun S
Publication Date: 2019
Variant appearance in text: PRNP: Ser17Gly
PubMed Link:
31410005
Variant Present in the following documents:
Main text
ndt-15-2003.pdf
View BVdb publication page
Characterization of mutations in PRNP (prion) gene and their possible roles in neurodegenerative diseases.
Neuropsychiatric Disease And Treatment
Bagyinszky, Eva E; Giau, Vo Van VV; Youn, Young Chul YC; An, Seong Soo A SSA; Kim, SangYun S
Publication Date: 2018
Variant appearance in text: CJD: S17G
PubMed Link:
30147320
Variant Present in the following documents:
Main text
ndt-14-2067.pdf
View BVdb publication page