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.




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