PSEN1 c.262C>T ;(p.P88S)

Variant ID: 14-73637679-C-T

NM_000021.3(PSEN1):c.262C>T;(p.P88S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021-10-19

Variant appearance in text: S182: P88S
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 11
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021

Variant appearance in text: S182: P88S
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 11
View BVdb publication page



Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Sun, Linfeng L; Zhou, Rui R; Yang, Guanghui G; Shi, Yigong Y
Publication Date: 2017-01-24

Variant appearance in text: PS1: P88S
PubMed Link: 27930341
Variant Present in the following documents:
  • Main text
View BVdb publication page