PSEN1 c.1307C>T ;(p.P436L)

Variant ID: 14-73685900-C-T

NM_000021.3(PSEN1):c.1307C>T;(p.P436L)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A
Publication Date: 2022-08-15

Variant appearance in text: PSEN1: P436L
PubMed Link: 35653148
Variant Present in the following documents:
  • ccr-21-3189_supplementary_tables_ts1-9_suppts1-9.xlsx, sheet 5
View BVdb publication page



Gene Editing and Alzheimer's Disease: Is There Light at the End of the Tunnel?

Frontiers In Genome Editing
Stepanichev, Mikhail M
Publication Date: 2020

Variant appearance in text: PSEN1: P436L
PubMed Link: 34713213
Variant Present in the following documents:
  • Main text
  • fgeed-02-00004.pdf
View BVdb publication page



Introduction of pathogenic mutations into the mouse Psen1 gene by Base Editor and Target-AID.

Nature Communications
Sasaguri, Hiroki H; Nagata, Kenichi K; Sekiguchi, Misaki M; Fujioka, Ryo R; Matsuba, Yukio Y; Hashimoto, Shoko S; Sato, Kaori K; Kurup, Deepika D; Yokota, Takanori T; Saido, Takaomi C TC
Publication Date: 2018-07-24

Variant appearance in text: PS1: P436L
PubMed Link: 30042426
Variant Present in the following documents:
  • Main text
  • 41467_2018_Article_5262.pdf
  • 41467_2018_5262_MOESM1_ESM.pdf
View BVdb publication page