NPC1 c.180G>T ;(p.Q60H)

Variant ID: 18-21153416-C-A

NM_000271.4(NPC1):c.180G>T;(p.Q60H)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: NPC1: Q60H
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Elevated granulocyte-colony stimulating factor and hematopoietic stem cell mobilization in Niemann-Pick type C1 disease.

Journal Of Lipid Research
Groenen, Anouk G AG; La Rose, Anouk M AM; Li, Mengying M; Bazioti, Venetia V; Svendsen, Arthur F AF; Kloosterhuis, Niels J NJ; Ausema, Albertina A; Pranger, Alle A; Heiner-Fokkema, M Rebecca MR; Niezen-Koning, Klary E KE; Houben, Tom T; Shiri-Sverdlov, Ronit R; Westerterp, Marit M
Publication Date: 2022-02

Variant appearance in text: NPC1: 180G>T; Gln60His
PubMed Link: 35007562
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann-Pick disease type C1.

Scientific Reports
Chiorean, Andreea A; Garver, William S WS; Meyre, David D
Publication Date: 2020-11-02

Variant appearance in text: rs145666943
PubMed Link: 33139814
Variant Present in the following documents:
  • 41598_2020_75919_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Determination of the Pathological Features of NPC1 Variants in a Cellular Complementation Test.

International Journal Of Molecular Sciences
Feng, Xiao X; Cozma, Claudia C; Pantoom, Supansa S; Hund, Christina C; Iwanov, Katharina K; Petters, Janine J; Völkner, Christin C; Bauer, Claudia C; Vogel, Florian F; Bauer, Peter P; Weiss, Frank U FU; Lerch, Markus M MM; Knospe, Anne-Marie AM; Hermann, Andreas A; Frech, Moritz J MJ; Luo, Jiankai J; Rolfs, Arndt A; Lukas, Jan J
Publication Date: 2019-10-19

Variant appearance in text: NPC1: 180G>T; Gln60His; rs145666943
PubMed Link: 31635081
Variant Present in the following documents:
  • Main text
  • ijms-20-05185.pdf
View BVdb publication page



High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Wassif, Christopher A CA; Cross, Joanna L JL; Iben, James J; Sanchez-Pulido, Luis L; Cougnoux, Antony A; Platt, Frances M FM; Ory, Daniel S DS; Ponting, Chris P CP; Bailey-Wilson, Joan E JE; Biesecker, Leslie G LG; Porter, Forbes D FD
Publication Date: 2016-01

Variant appearance in text: NPC1: 180G>T; Q60H
PubMed Link: 25764212
Variant Present in the following documents:
  • Main text
  • emss-62276.pdf
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: 180G>T; Gln60His; rs145666943
PubMed Link: 24386122
Variant Present in the following documents:
  • Main text
  • pone.0082879.pdf
View BVdb publication page