NPC1 c.1858G>A ;(p.D620N)

Variant ID: 18-21125013-C-T

NM_000271.4(NPC1):c.1858G>A;(p.D620N)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Mitochondria and Other Organelles in Neural Development and Their Potential as Therapeutic Targets in Neurodegenerative Diseases.

Frontiers In Neuroscience
Zhang, Shuyuan S; Zhao, Juan J; Quan, Zhenzhen Z; Li, Hui H; Qing, Hong H
Publication Date: 2022

Variant appearance in text: NPC1: D620N
PubMed Link: 35450015
Variant Present in the following documents:
  • Main text
  • fnins-16-853911.pdf
View BVdb publication page



Insulin-Like Growth Factor-II/Cation-Independent Mannose 6-Phosphate Receptor in Neurodegenerative Diseases.

Molecular Neurobiology
Wang, Y Y; MacDonald, R G RG; Thinakaran, G G; Kar, S S
Publication Date: 2017-05

Variant appearance in text: NPC1: D620N
PubMed Link: 26993302
Variant Present in the following documents:
  • Main text
View BVdb publication page