PSEN1 c.815T>A ;(p.V272D)

Variant ID: 14-73664784-T-A

NM_000021.3(PSEN1):c.815T>A;(p.V272D)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.

International Journal Of Molecular Sciences
Bagaria, Jaya J; Bagyinszky, Eva E; An, Seong Soo A SSA
Publication Date: 2022-09-19

Variant appearance in text: PSEN1: V272D
PubMed Link: 36142879
Variant Present in the following documents:
  • ijms-23-10970.pdf
View BVdb publication page



Oxidative Stress and Changes of Important Metabolic Gene Expressions as a Potential Biomarker in the Diagnosis of Atherosclerosis in Leukocytes.

Brazilian Journal Of Cardiovascular Surgery
Işık, Mesut M; Tunç, Abdullah A; Beydemir, Şükrü Ş
Publication Date: 2022-08-16

Variant appearance in text: PSEN1: V272D
PubMed Link: 35976206
Variant Present in the following documents:
  • rbccv-37-04-0481.pdf
View BVdb publication page



Clinical Phenotype and Mutation Spectrum of Alzheimer's Disease with Causative Genetic Mutation in a Chinese Cohort.

Current Alzheimer Research
Mao, Chenhui C; Li, Jie J; Dong, Liling L; Huang, Xinying X; Lei, Dan D; Wang, Jie J; Chu, Shanshan S; Liu, Caiyan C; Peng, Bin B; Román, Gustavo C GC; Cui, Liying L; Gao, Jing J
Publication Date: 2021

Variant appearance in text: PSEN1: V272D
PubMed Link: 34102969
Variant Present in the following documents:
  • CAR-18-265.pdf
View BVdb publication page