NPC1 c.1255A>G ;(p.I419V)

Variant ID: 18-21136278-T-C

NM_000271.4(NPC1):c.1255A>G;(p.I419V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: rs772847092
PubMed Link: 33139814
Variant Present in the following documents:
  • 41598_2020_75919_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Single-Nucleotide Polymorphisms in Human NPC1 Influence Filovirus Entry Into Cells.

The Journal Of Infectious Diseases
Kondoh, Tatsunari T; Letko, Michael M; Munster, Vincent J VJ; Manzoor, Rashid R; Maruyama, Junki J; Furuyama, Wakako W; Miyamoto, Hiroko H; Shigeno, Asako A; Fujikura, Daisuke D; Takadate, Yoshihiro Y; Yoshida, Reiko R; Igarashi, Manabu M; Feldmann, Heinz H; Marzi, Andrea A; Takada, Ayato A
Publication Date: 2018-11-22

Variant appearance in text: NPC1: I419V; rs772847092
PubMed Link: 30010949
Variant Present in the following documents:
  • Main text
View BVdb publication page