PSEN1 c.1178T>C ;(p.V393A)

Variant ID: 14-73683882-T-C

NM_000021.3(PSEN1):c.1178T>C;(p.V393A)

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: 2021-10-19

Variant appearance in text: S182: V393A
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: V393A
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 11
View BVdb publication page



Transcriptional profiling of multiple system atrophy cerebellar tissue highlights differences between the parkinsonian and cerebellar sub-types of the disease.

Acta Neuropathologica Communications
Piras, Ignazio S IS; Bleul, Christiane C; Schrauwen, Isabelle I; Talboom, Joshua J; Llaci, Lorida L; De Both, Matthew D MD; Naymik, Marcus A MA; Halliday, Glenda G; Bettencourt, Conceicao C; Holton, Janice L JL; Serrano, Geidy E GE; Sue, Lucia I LI; Beach, Thomas G TG; Stefanova, Nadia N; Huentelman, Matthew J MJ
Publication Date: 2020-06-03

Variant appearance in text: PSEN1: V393A
PubMed Link: 32493431
Variant Present in the following documents:
  • 40478_2020_Article_950.pdf
View BVdb publication page



Genetics Underlying Atypical Parkinsonism and Related Neurodegenerative Disorders.

International Journal Of Molecular Sciences
Scholz, Sonja W SW; Bras, Jose J
Publication Date: 2015-10-16

Variant appearance in text: PSEN1: V393A
PubMed Link: 26501269
Variant Present in the following documents:
  • Main text
  • ijms-16-24629.pdf
View BVdb publication page