PSEN1 c.340A>T ;(p.I114F)

Variant ID: 14-73640275-A-T

NM_000021.3(PSEN1):c.340A>T;(p.I114F)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Enzyme-substrate interface targeting by imidazole-based γ-secretase modulators activates γ-secretase and stabilizes its interaction with APP.

The Embo Journal
Petit, Dieter D; Hitzenberger, Manuel M; Koch, Matthias M; Lismont, Sam S; Zoltowska, Katarzyna Marta KM; Enzlein, Thomas T; Hopf, Carsten C; Zacharias, Martin M; Chávez-Gutiérrez, Lucía L
Publication Date: 2022-11-02

Variant appearance in text: PSEN1: I114F
PubMed Link: 36121025
Variant Present in the following documents:
  • EMBJ-41-e111084-s001.pdf
View BVdb publication page



SOD-1 Variants in Amyotrophic Lateral Sclerosis: Systematic Re-Evaluation According to ACMG-AMP Guidelines.

Genes
Ruffo, Paola P; Perrone, Benedetta B; Conforti, Francesca Luisa FL
Publication Date: 2022-03-18

Variant appearance in text: PS1: 340A>T
PubMed Link: 35328090
Variant Present in the following documents:
  • genes-13-00537.pdf
View BVdb publication page



Integrated multi-omics analysis of genomics, epigenomics, and transcriptomics in ovarian carcinoma.

Aging
Zheng, Mingjun M; Hu, Yuexin Y; Gou, Rui R; Wang, Jing J; Nie, Xin X; Li, Xiao X; Liu, Qing Q; Liu, Juanjuan J; Lin, Bei B
Publication Date: 2019-06-29

Variant appearance in text: PSEN1: 340A>T
PubMed Link: 31257224
Variant Present in the following documents:
  • aging-11-102047-s002.xlsx, sheet 11
  • aging-11-102047-s002.xlsx, sheet 12
  • aging-11-102047-s002.xlsx, sheet 13
View BVdb publication page