APP c.389C>T ;(p.P130L)

Variant ID: 21-27425631-G-A

NM_000484.3(APP):c.389C>T;(p.P130L)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: APP: P130L
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Genomic analysis of oesophageal squamous-cell carcinoma identifies alcohol drinking-related mutation signature and genomic alterations.

Nature Communications
Chang, Jiang J; Tan, Wenle W; Ling, Zhiqiang Z; Xi, Ruibin R; Shao, Mingming M; Chen, Mengjie M; Luo, Yingying Y; Zhao, Yanjie Y; Liu, Yun Y; Huang, Xiancong X; Xia, Yuchao Y; Hu, Jinlin J; Parker, Joel S JS; Marron, David D; Cui, Qionghua Q; Peng, Linna L; Chu, Jiahui J; Li, Hongmin H; Du, Zhongli Z; Han, Yaling Y; Tan, Wen W; Liu, Zhihua Z; Zhan, Qimin Q; Li, Yun Y; Mao, Weimin W; Wu, Chen C; Lin, Dongxin D
Publication Date: 2017-05-26

Variant appearance in text: APP: 389C>T
PubMed Link: 28548104
Variant Present in the following documents:
  • ncomms15290-s4.xlsx, sheet 1
View BVdb publication page



Ryanodine receptors: physiological function and deregulation in Alzheimer disease.

Molecular Neurodegeneration
Del Prete, Dolores D; Checler, Frédéric F; Chami, Mounia M
Publication Date: 2014-06-05

Variant appearance in text: APP: P130L
PubMed Link: 24902695
Variant Present in the following documents:
  • Main text
View BVdb publication page



NMDA-mediated Ca(2+) influx drives aberrant ryanodine receptor activation in dendrites of young Alzheimer's disease mice.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Goussakov, Ivan I; Miller, Megan B MB; Stutzmann, Grace E GE
Publication Date: 2010-09-08

Variant appearance in text: APP: P130L
PubMed Link: 20826675
Variant Present in the following documents:
  • Main text
View BVdb publication page