PSEN1 c.319A>G ;(p.T107A)

Variant ID: 14-73637736-A-G

NM_000021.3(PSEN1):c.319A>G;(p.T107A)

This variant was identified in 3 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

Variant appearance in text: S182: T107A
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: 2021-10-19

Variant appearance in text: S182: T107A
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 11
View BVdb publication page



Hydrophilic loop 1 of Presenilin-1 and the APP GxxxG transmembrane motif regulate γ-secretase function in generating Alzheimer-causing Aβ peptides.

The Journal Of Biological Chemistry
Liu, Lei L; Lauro, Bianca M BM; Wolfe, Michael S MS; Selkoe, Dennis J DJ
Publication Date: 2021

Variant appearance in text: PS1: T107A
PubMed Link: 33571524
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology
Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP
Publication Date: 2015-03

Variant appearance in text: S182: T107A
PubMed Link: 25794154
Variant Present in the following documents:
  • pcbi.1004147.s001.xlsx, sheet 1
View BVdb publication page