NPC1 c.2054T>G ;(p.I685S)

Variant ID: 18-21124384-A-C

NM_000271.4(NPC1):c.2054T>G;(p.I685S)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Structural basis for itraconazole-mediated NPC1 inhibition.

Nature Communications
Long, Tao T; Qi, Xiaofeng X; Hassan, Abdirahman A; Liang, Qiren Q; De Brabander, Jef K JK; Li, Xiaochun X
Publication Date: 2020-01-09

Variant appearance in text: NPC1: I685S
PubMed Link: 31919352
Variant Present in the following documents:
  • Main text
  • 41467_2019_Article_13917.pdf
View BVdb publication page