PSEN1 c.834A>T ;(p.R278S)

Variant ID: 14-73664803-A-T

NM_000021.3(PSEN1):c.834A>T;(p.R278S)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer's Disease.

International Journal Of Molecular Sciences
Yang, Youngsoon Y; Bagyinszky, Eva E; An, Seong Soo A SSA
Publication Date: 2023-05-08

Variant appearance in text: PSEN1: Arg278Ser
PubMed Link: 37176125
Variant Present in the following documents:
  • ijms-24-08417.pdf
View BVdb publication page



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: Arg278Ser
PubMed Link: 36142879
Variant Present in the following documents:
  • ijms-23-10970.pdf
View BVdb publication page



Variability in the type and layer distribution of cortical Aβ pathology in familial Alzheimer's disease.

Brain Pathology (Zurich, Switzerland)
Willumsen, Nanet N; Poole, Teresa T; Nicholas, Jennifer M JM; Fox, Nick C NC; Ryan, Natalie S NS; Lashley, Tammaryn T
Publication Date: 2022-05

Variant appearance in text: PSEN1: Arg278Ser
PubMed Link: 34319632
Variant Present in the following documents:
  • BPA-32-e13009.pdf
View BVdb publication page



Identification and Clinical Analysis of the First Nonsense Mutation in the PSEN1 Gene in a Family With Acute Encephalopathy and Retinitis Pigmentosa.

Frontiers In Neurology
You, Chunlin C; Zeng, Weike W; Deng, Lingna L; Lei, Zhihao Z; Gao, Xinyi X; Zhang, Victor Wei VW; Wang, Yidong Y
Publication Date: 2020

Variant appearance in text: PSEN1: Arg278Ser
PubMed Link: 32431660
Variant Present in the following documents:
  • fneur-11-00319.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: R278S
PubMed Link: 31300647
Variant Present in the following documents:
  • 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3
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: Arg278Ser
PubMed Link: 24729694
Variant Present in the following documents:
  • Main text
  • cia-9-535.pdf
View BVdb publication page



Clinical, biological, and imaging features of monogenic Alzheimer's Disease.

Biomed Research International
Pilotto, Andrea A; Padovani, Alessandro A; Borroni, Barbara B
Publication Date: 2013

Variant appearance in text: PSEN1: R278S
PubMed Link: 24377094
Variant Present in the following documents:
  • Main text
  • BMRI2013-689591.pdf
View BVdb publication page