Bibliome.ai browser hg19
Search
About
Stats
FAQ
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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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