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NPC1 c.2903A>G ;(p.N968S)
Variant ID: 18-21119327-T-C
NM_000271.4(
NPC1
):c.2903A>G;(p.N968S)
This variant was identified in 10 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
A Multi-Gene Panel to Identify Lipedema-Predisposing Genetic Variants by a Next-Generation Sequencing Strategy.
Journal Of Personalized Medicine
Michelini, Sandro S; Herbst, Karen L KL; Precone, Vincenza V; Manara, Elena E; Marceddu, Giuseppe G; Dautaj, Astrit A; Maltese, Paolo Enrico PE; Paolacci, Stefano S; Ceccarini, Maria Rachele MR; Beccari, Tommaso T; Sorrentino, Elisa E; Aquilanti, Barbara B; Velluti, Valeria V; Matera, Giuseppina G; Gagliardi, Lucilla L; Miggiano, Giacinto Abele Donato GAD; Bertelli, Matteo M
Publication Date: 2022-02-11
Variant appearance in text: NPC1: 2903A>G; rs773767253
PubMed Link:
35207755
Variant Present in the following documents:
jpm-12-00268.pdf
View BVdb publication page
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: rs773767253
PubMed Link:
33139814
Variant Present in the following documents:
41598_2020_75919_MOESM2_ESM.xlsx, sheet 3
41598_2020_75919_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page
Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants.
Journal Of Clinical Medicine
Dardis, Andrea A; Zampieri, Stefania S; Gellera, Cinzia C; Carrozzo, Rosalba R; Cattarossi, Silvia S; Peruzzo, Paolo P; Dariol, Rosalia R; Sechi, Annalisa A; Deodato, Federica F; Caccia, Claudio C; Verrigni, Daniela D; Gasperini, Serena S; Fiumara, Agata A; Fecarotta, Simona S; Carecchio, Miryam M; Filosto, Massimiliano M; Santoro, Lucia L; Borroni, Barbara B; Bordugo, Andrea A; Brancati, Francesco F; Russo, Cinzia V CV; Di Rocco, Maja M; Toscano, Antonio A; Scarpa, Maurizio M; Bembi, Bruno B
Publication Date: 2020-03-03
Variant appearance in text: NPC1: 2903A>G; N968S
PubMed Link:
32138288
Variant Present in the following documents:
Main text
jcm-09-00679.pdf
View BVdb publication page
Abnormal Vertical Eye Movements as a Clue for Diagnosis of Niemann-Pick Type C.
Tremor And Other Hyperkinetic Movements (New York, N.Y.)
Gupta, Deepak K DK; Blanco-Palmero, Victor A VA; Chung, Wendy K WK; Kuo, Sheng-Han SH
Publication Date: 2018
Variant appearance in text: NPC1: N968S
PubMed Link:
29971198
Variant Present in the following documents:
Main text
tre-08-560-7522-1.pdf
View BVdb publication page
Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection.
Cell
Gong, Xin X; Qian, Hongwu H; Zhou, Xinhui X; Wu, Jianping J; Wan, Tao T; Cao, Pingping P; Huang, Weiyun W; Zhao, Xin X; Wang, Xudong X; Wang, Peiyi P; Shi, Yi Y; Gao, George F GF; Zhou, Qiang Q; Yan, Nieng N
Publication Date: 2016-06-02
Variant appearance in text: NPC1: N968S
PubMed Link:
27238017
Variant Present in the following documents:
mmc1.pdf
mmc2.pdf
View BVdb publication page
Establishing the precise evolutionary history of a gene improves prediction of disease-causing missense mutations.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Adebali, Ogun O; Reznik, Alexander O AO; Ory, Daniel S DS; Zhulin, Igor B IB
Publication Date: 2016-10
Variant appearance in text: NPC1: N968S
PubMed Link:
26890452
Variant Present in the following documents:
Main text
View BVdb publication page
Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database.
Bmc Neurology
Imrie, Jackie J; Heptinstall, Lesley L; Knight, Stephen S; Strong, Kate K
Publication Date: 2015-12-15
Variant appearance in text: NPC1: 2903A>G; Asn968Ser
PubMed Link:
26666848
Variant Present in the following documents:
Main text
12883_2015_Article_511.pdf
View BVdb publication page
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: N968S
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: N968S
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C.
Orphanet Journal Of Rare Diseases
Fecarotta, Simona S; Romano, Alfonso A; Della Casa, Roberto R; Del Giudice, Ennio E; Bruschini, Diana D; Mansi, Giuseppina G; Bembi, Bruno B; Dardis, Andrea A; Fiumara, Agata A; Di Rocco, Maja M; Uziel, Graziella G; Ardissone, Anna A; Roccatello, Dario D; Alpa, Mirella M; Bertini, Enrico E; D'Amico, Adele A; Dionisi-Vici, Carlo C; Deodato, Federica F; Caviglia, Stefania S; Federico, Antonio A; Palmeri, Silvia S; Gabrielli, Orazio O; Santoro, Lucia L; Filla, Alessandro A; Russo, Cinzia C; Parenti, Giancarlo G; Andria, Generoso G
Publication Date: 2015-02-27
Variant appearance in text: NPC1: 2903A>G; N968S
PubMed Link:
25888393
Variant Present in the following documents:
13023_2015_240_MOESM1_ESM.pdf
View BVdb publication page