NPC1 c.236A>T ;(p.Q79L)

Variant ID: 18-21152089-T-A

NM_000271.4(NPC1):c.236A>T;(p.Q79L)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Evaluation of Phenol-Substituted Diphyllin Derivatives as Selective Antagonists for Ebola Virus Entry.

Acs Infectious Diseases
Plescia, Caroline B CB; Lindstrom, Aaron R AR; Quintero, Maritza V MV; Keiser, Patrick P; Anantpadma, Manu M; Davey, Robert R; Stahelin, Robert V RV; Davisson, V Jo VJ
Publication Date: 2022-05-13

Variant appearance in text: NPC1: Q79L
PubMed Link: 35357134
Variant Present in the following documents:
  • Main text
  • id1c00474.pdf
View BVdb publication page



A trimeric Rab7 GEF controls NPC1-dependent lysosomal cholesterol export.

Nature Communications
van den Boomen, Dick J H DJH; Sienkiewicz, Agata A; Berlin, Ilana I; Jongsma, Marlieke L M MLM; van Elsland, Daphne M DM; Luzio, J Paul JP; Neefjes, Jacques J C JJC; Lehner, Paul J PJ
Publication Date: 2020-11-03

Variant appearance in text: NPC1: Q79L
PubMed Link: 33144569
Variant Present in the following documents:
  • 41467_2020_19032_MOESM1_ESM.pdf
View BVdb publication page



A voltage-dependent K+ channel in the lysosome is required for refilling lysosomal Ca2+ stores.

The Journal Of Cell Biology
Wang, Wuyang W; Zhang, Xiaoli X; Gao, Qiong Q; Lawas, Maria M; Yu, Lu L; Cheng, Xiping X; Gu, Mingxue M; Sahoo, Nirakar N; Li, Xinran X; Li, Ping P; Ireland, Stephen S; Meredith, Andrea A; Xu, Haoxing H
Publication Date: 2017-06-05

Variant appearance in text: NPC1: Q79L
PubMed Link: 28468834
Variant Present in the following documents:
  • JCB_201612123.pdf
View BVdb publication page



Intra-endosomal trafficking mediated by lysobisphosphatidic acid contributes to intracellular release of phosphorothioate-modified antisense oligonucleotides.

Nucleic Acids Research
Wang, Shiyu S; Sun, Hong H; Tanowitz, Michael M; Liang, Xue-Hai XH; Crooke, Stanley T ST
Publication Date: 2017-05-19

Variant appearance in text: NPC1: Q79L
PubMed Link: 28379543
Variant Present in the following documents:
  • Main text
View BVdb publication page



Wnt directs the endosomal flux of LDL-derived cholesterol and lipid droplet homeostasis.

Embo Reports
Scott, Cameron C CC; Vossio, Stefania S; Vacca, Fabrizio F; Snijder, Berend B; Larios, Jorge J; Schaad, Olivier O; Guex, Nicolas N; Kuznetsov, Dmitry D; Martin, Olivier O; Chambon, Marc M; Turcatti, Gerardo G; Pelkmans, Lucas L; Gruenberg, Jean J
Publication Date: 2015-06

Variant appearance in text: NPC1: Q79L
PubMed Link: 25851648
Variant Present in the following documents:
  • Main text
View BVdb publication page