NPC1 c.1901A>G ;(p.Y634C)

Variant ID: 18-21124970-T-C

NM_000271.4(NPC1):c.1901A>G;(p.Y634C)

This variant was identified in 7 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: rs202140203
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



Cholesterol binding to the sterol-sensing region of Niemann Pick C1 protein confines dynamics of its N-terminal domain.

Plos Computational Biology
Dubey, Vikas V; Bozorg, Behruz B; Wüstner, Daniel D; Khandelia, Himanshu H
Publication Date: 2020-10

Variant appearance in text: NPC1: Tyr634Cys
PubMed Link: 33021976
Variant Present in the following documents:
  • Main text
  • pcbi.1007554.pdf
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: 1901A>G; Y634C
PubMed Link: 32138288
Variant Present in the following documents:
  • Main text
  • jcm-09-00679.pdf
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Modeling Niemann-Pick disease type C in a human haploid cell line allows for patient variant characterization and clinical interpretation.

Genome Research
Erwood, Steven S; Brewer, Reid A RA; Bily, Teija M I TMI; Maino, Eleonora E; Zhou, Liangchi L; Cohn, Ronald D RD; Ivakine, Evgueni A EA
Publication Date: 2019-12

Variant appearance in text: NPC1: Y634C
PubMed Link: 31754021
Variant Present in the following documents:
  • Main text
  • supp_gr.250720.119_SupplementalTables.xlsx, sheet 2
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Quantitating the epigenetic transformation contributing to cholesterol homeostasis using Gaussian process.

Nature Communications
Wang, Chao C; Scott, Samantha M SM; Subramanian, Kanagaraj K; Loguercio, Salvatore S; Zhao, Pei P; Hutt, Darren M DM; Farhat, Nicole Y NY; Porter, Forbes D FD; Balch, William E WE
Publication Date: 2019-11-07

Variant appearance in text: NPC1: Y634C
PubMed Link: 31699992
Variant Present in the following documents:
  • 41467_2019_Article_12969.pdf
View BVdb publication page



High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Wassif, Christopher A CA; Cross, Joanna L JL; Iben, James J; Sanchez-Pulido, Luis L; Cougnoux, Antony A; Platt, Frances M FM; Ory, Daniel S DS; Ponting, Chris P CP; Bailey-Wilson, Joan E JE; Biesecker, Leslie G LG; Porter, Forbes D FD
Publication Date: 2016-01

Variant appearance in text: NPC1: 1901A>G; Y634C; rs202140203
PubMed Link: 25764212
Variant Present in the following documents:
  • Main text
  • emss-62276.pdf
View BVdb publication page



Endoplasmic reticulum-associated degradation of Niemann-Pick C1: evidence for the role of heat shock proteins and identification of lysine residues that accept ubiquitin.

The Journal Of Biological Chemistry
Nakasone, Naoe N; Nakamura, Yuko S YS; Higaki, Katsumi K; Oumi, Nao N; Ohno, Kousaku K; Ninomiya, Haruaki H
Publication Date: 2014-07-11

Variant appearance in text: NPC1: Y634C
PubMed Link: 24891511
Variant Present in the following documents:
  • Main text
View BVdb publication page