PSEN1 c.496_497inv ;(p.L166S)

Variant ID: 14-73653576-CT-AG

NM_000021.3(PSEN1):c.496_497inv;(p.L166S)

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: L166S
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: L166S
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 11
View BVdb publication page



Presenilin-1 mutations of leucine 166 equally affect the generation of the Notch and APP intracellular domains independent of their effect on Abeta 42 production.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Moehlmann, Tobias T; Winkler, Edith E; Xia, Xuefeng X; Edbauer, Dieter D; Murrell, Jill J; Capell, Anja A; Kaether, Christoph C; Zheng, Hui H; Ghetti, Bernardino B; Haass, Christian C; Steiner, Harald H
Publication Date: 2002-06-11

Variant appearance in text: PS1: L166S
PubMed Link: 12048239
Variant Present in the following documents:
  • Main text
View BVdb publication page