NPC1 c.2010C>G ;(p.C670W)

Variant ID: 18-21124428-G-C

NM_000271.4(NPC1):c.2010C>G;(p.C670W)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: NPC1: C670W
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Curation of the Mammalian Palmitoylome Indicates a Pivotal Role for Palmitoylation in Diseases and Disorders of the Nervous System and Cancers.

Plos Computational Biology
Sanders, Shaun S SS; Martin, Dale D O DD; Butland, Stefanie L SL; Lavallée-Adam, Mathieu M; Calzolari, Diego D; Kay, Chris C; Yates, John R JR; Hayden, Michael R MR
Publication Date: 2015-08

Variant appearance in text: NPC1: C670W
PubMed Link: 26275289
Variant Present in the following documents:
  • Main text
  • pcbi.1004405.pdf
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: NPC1: C670W
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page