NPC1 c.1561G>C ;(p.A521P)

Variant ID: 18-21131684-C-G

NM_000271.4(NPC1):c.1561G>C;(p.A521P)

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

Variant appearance in text: NPC1: A521P
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 9
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: NPC1: A521P
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 9
View BVdb publication page



Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders.

Plos One
Zech, Michael M; Nübling, Georg G; Castrop, Florian F; Jochim, Angela A; Schulte, Eva C EC; Mollenhauer, Brit B; Lichtner, Peter P; Peters, Annette A; Gieger, Christian C; Marquardt, Thorsten T; Vanier, Marie T MT; Latour, Philippe P; Klünemann, Hans H; Trenkwalder, Claudia C; Diehl-Schmid, Janine J; Perneczky, Robert R; Meitinger, Thomas T; Oexle, Konrad K; Haslinger, Bernhard B; Lorenzl, Stefan S; Winkelmann, Juliane J
Publication Date: 2013

Variant appearance in text: NPC1: 1561G>C; Ala521Pro
PubMed Link: 24386122
Variant Present in the following documents:
  • Main text
  • pone.0082879.pdf
View BVdb publication page