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NPC1 c.1143G>C ;(p.W381C)
Variant ID: 18-21136390-C-G
NM_000271.4(
NPC1
):c.1143G>C;(p.W381C)
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: W381C
PubMed Link:
26659599
Variant Present in the following documents:
pone.0144692.s002.xlsx, sheet 1
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: W381C
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page
Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators.
Orphanet Journal Of Rare Diseases
Stampfer, Miriam M; Theiss, Susanne S; Amraoui, Yasmina Y; Jiang, Xuntian X; Keller, Sigrid S; Ory, Daniel S DS; Mengel, Eugen E; Fischer, Christine C; Runz, Heiko H
Publication Date: 2013-02-22
Variant appearance in text: NPC1: W381C
PubMed Link:
23433426
Variant Present in the following documents:
Main text
1750-1172-8-35.pdf
View BVdb publication page