PSEN1 c.1254G>C ;(p.L418F)

Variant ID: 14-73685847-G-C

NM_000021.3(PSEN1):c.1254G>C;(p.L418F)

This variant was identified in 6 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: Leu418Phe
PubMed Link: 36142879
Variant Present in the following documents:
  • Main text
  • ijms-23-10970.pdf
View BVdb publication page



PSEN1 c.1292C<A Variant and Early-Onset Alzheimer's Disease: A Scoping Review.

Frontiers In Aging Neuroscience
Orozco-Barajas, Maribel M; Oropeza-Ruvalcaba, Yulisa Y; Canales-Aguirre, Alejandro A AA; Sánchez-González, Victor J VJ
Publication Date: 2022

Variant appearance in text: PSEN1: L418F
PubMed Link: 35959289
Variant Present in the following documents:
  • Main text
  • fnagi-14-860529.pdf
View BVdb publication page



Brain somatic mutations observed in Alzheimer's disease associated with aging and dysregulation of tau phosphorylation.

Nature Communications
Park, Jun Sung JS; Lee, Junehawk J; Jung, Eun Sun ES; Kim, Myeong-Heui MH; Kim, Il Bin IB; Son, Hyeonju H; Kim, Sangwoo S; Kim, Sanghyeon S; Park, Young Mok YM; Mook-Jung, Inhee I; Yu, Seok Jong SJ; Lee, Jeong Ho JH
Publication Date: 2019-07-12

Variant appearance in text: PSEN1: L418F
PubMed Link: 31300647
Variant Present in the following documents:
  • 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3
View BVdb publication page



APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.

Plos Medicine
Lanoiselée, Hélène-Marie HM; Nicolas, Gaël G; Wallon, David D; Rovelet-Lecrux, Anne A; Lacour, Morgane M; Rousseau, Stéphane S; Richard, Anne-Claire AC; Pasquier, Florence F; Rollin-Sillaire, Adeline A; Martinaud, Olivier O; Quillard-Muraine, Muriel M; de la Sayette, Vincent V; Boutoleau-Bretonniere, Claire C; Etcharry-Bouyx, Frédérique F; Chauviré, Valérie V; Sarazin, Marie M; le Ber, Isabelle I; Epelbaum, Stéphane S; Jonveaux, Thérèse T; Rouaud, Olivier O; Ceccaldi, Mathieu M; Félician, Olivier O; Godefroy, Olivier O; Formaglio, Maite M; Croisile, Bernard B; Auriacombe, Sophie S; Chamard, Ludivine L; Vincent, Jean-Louis JL; Sauvée, Mathilde M; Marelli-Tosi, Cecilia C; Gabelle, Audrey A; Ozsancak, Canan C; Pariente, Jérémie J; Paquet, Claire C; Hannequin, Didier D; Campion, Dominique D; ,
Publication Date: 2017-03

Variant appearance in text: PSEN1: 1254G>C; Leu418Phe
PubMed Link: 28350801
Variant Present in the following documents:
  • Main text
  • pmed.1002270.pdf
View BVdb publication page



The genetics of Alzheimer's disease.

Clinical Interventions In Aging
Bagyinszky, Eva E; Youn, Young Chul YC; An, Seong Soo A SS; Kim, SangYun S
Publication Date: 2014

Variant appearance in text: PSEN1: Leu418Phe
PubMed Link: 24729694
Variant Present in the following documents:
  • Main text
  • cia-9-535.pdf
View BVdb publication page



Upregulated function of mitochondria-associated ER membranes in Alzheimer disease.

The Embo Journal
Area-Gomez, Estela E; Del Carmen Lara Castillo, Maria M; Tambini, Marc D MD; Guardia-Laguarta, Cristina C; de Groof, Ad J C AJ; Madra, Moneek M; Ikenouchi, Junichi J; Umeda, Masato M; Bird, Thomas D TD; Sturley, Stephen L SL; Schon, Eric A EA
Publication Date: 2012-11-05

Variant appearance in text: PS1: L418F
PubMed Link: 22892566
Variant Present in the following documents:
  • emboj2012202s1.pdf
View BVdb publication page