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PRNP c.674A>G ;(p.Y225C)
Variant ID: 20-4680540-A-G
NM_000311.3(
PRNP
):c.674A>G;(p.Y225C)
This variant was identified in 7 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: Y225C
PubMed Link:
36614069
Variant Present in the following documents:
Main text
ijms-24-00625.pdf
View BVdb publication page
Mechanistic Insights into the Neuroprotective Potential of Sacred Ficus Trees.
Nutrients
Shim, Kyu Hwan KH; Sharma, Niti N; An, Seong Soo A SSA
Publication Date: 2022-11-09
Variant appearance in text: PRNP: Tyr225Cys
PubMed Link:
36432418
Variant Present in the following documents:
nutrients-14-04731.pdf
View BVdb publication page
Genetic prion diseases presenting as frontotemporal dementia: clinical features and diagnostic challenge.
Alzheimer'S Research & Therapy
Chen, Zhongyun Z; Chu, Min M; Liu, Li L; Zhang, Jing J; Kong, Yu Y; Xie, Kexin K; Cui, Yue Y; Ye, Hong H; Li, Junjie J; Wang, Lin L; Wu, Liyong L
Publication Date: 2022-06-29
Variant appearance in text: PRNP: Y225C
PubMed Link:
35768878
Variant Present in the following documents:
Main text
13195_2022_Article_1033.pdf
View BVdb publication page
Alterations of Striatal Subregions in a Prion Protein Gene V180I Mutation Carrier Presented as Frontotemporal Dementia With Parkinsonism.
Frontiers In Aging Neuroscience
Chen, Zhongyun Z; Ma, Jinghong J; Liu, Li L; Liu, Shuying S; Zhang, Jing J; Chu, Min M; Wang, Zhen Z; Chan, Piu P; Wu, Liyong L
Publication Date: 2022
Variant appearance in text: PRNP: Tyr225Cys
PubMed Link:
35493933
Variant Present in the following documents:
fnagi-14-830602.pdf
View BVdb publication page
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: Y225C
PubMed Link:
32958805
Variant Present in the following documents:
41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page
Novel prion mutation (p.Tyr225Cys) in a Korean patient with atypical Creutzfeldt-Jakob disease.
Clinical Interventions In Aging
Bagyinszky, Eva E; Yang, YoungSoon Y; Giau, Vo Van VV; Youn, Young Chul YC; An, Seong Soo A SSA; Kim, SangYun S
Publication Date: 2019
Variant appearance in text: PRNP: 674A>G
PubMed Link:
31447551
Variant Present in the following documents:
Main text
cia-14-1387.pdf
View BVdb publication page
Genetic analyses of early-onset Alzheimer's disease using next generation sequencing.
Scientific Reports
Giau, Vo Van VV; Bagyinszky, Eva E; Yang, Young Soon YS; Youn, Young Chul YC; An, Seong Soo A SSA; Kim, Sang Yun SY
Publication Date: 2019-06-10
Variant appearance in text: PRNP: 674A>G
PubMed Link:
31182772
Variant Present in the following documents:
41598_2019_44848_MOESM1_ESM.pdf
View BVdb publication page