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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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