NPC1 c.2621A>T ;(p.D874V)

Variant ID: 18-21119949-T-A

NM_000271.4(NPC1):c.2621A>T;(p.D874V)

This variant was identified in 23 publications

View GRCh38 version.




Publications:


Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases
Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z
Publication Date: 2022-02-21

Variant appearance in text: NPC1: 2621A>T
PubMed Link: 35193651
Variant Present in the following documents:
  • 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02

Variant appearance in text: NPC1: D874V; rs372030650
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



A phase 1/2 open label nonrandomized clinical trial of intravenous 2-hydroxypropyl-β-cyclodextrin for acute liver disease in infants with Niemann-Pick C1.

Molecular Genetics And Metabolism Reports
Reynolds, Margaret M; Linneman, Laura A LA; Luna, Sofia S; Warner, Barbara B BB; Turmelle, Yumirle P YP; Kulkarni, Sakil S SS; Jiang, Xuntian X; Khanna, Geetika G; Shinawi, Marwan M; Porter, Forbes D FD; Ory, Daniel S DS; Cole, F Sessions FS; Dickson, Patricia I PI
Publication Date: 2021-09

Variant appearance in text: NPC1: 2621A>T; D874V
PubMed Link: 34113546
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Two Patients with Niemann Pick Disease Type C Diagnosed in the Seventh Decade of Life.

Movement Disorders Clinical Practice
Wu, Melanie M; Ceponiene, Rita R; Bayram, Ece E; Litvan, Irene I
Publication Date: 2020-11

Variant appearance in text: NPC1: 2621A>T; Asp874Val
PubMed Link: 33163568
Variant Present in the following documents:
  • Main text
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: rs372030650
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



Different Trafficking Phenotypes of Niemann-Pick C1 Gene Mutations Correlate with Various Alterations in Lipid Storage, Membrane Composition and Miglustat Amenability.

International Journal Of Molecular Sciences
Brogden, Graham G; Shammas, Hadeel H; Walters, Friederike F; Maalouf, Katia K; Das, Anibh M AM; Naim, Hassan Y HY; Rizk, Sandra S
Publication Date: 2020-03-19

Variant appearance in text: NPC1: D874V
PubMed Link: 32204338
Variant Present in the following documents:
  • Main text
  • ijms-21-02101-s001.pdf
  • ijms-21-02101.pdf
View BVdb publication page



Individualized management of genetic diversity in Niemann-Pick C1 through modulation of the Hsp70 chaperone system.

Human Molecular Genetics
Wang, Chao C; Scott, Samantha M SM; Sun, Shuhong S; Zhao, Pei P; Hutt, Darren M DM; Shao, Hao H; Gestwicki, Jason E JE; Balch, William E WE
Publication Date: 2020-01-01

Variant appearance in text: NPC1: D874V
PubMed Link: 31509197
Variant Present in the following documents:
  • Main text
View BVdb publication page



An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: NPC1: 2621A>T; Asp874Val
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



Different Niemann-Pick C1 Genotypes Generate Protein Phenotypes that Vary in their Intracellular Processing, Trafficking and Localization.

Scientific Reports
Shammas, Hadeel H; Kuech, Eva-Maria EM; Rizk, Sandra S; Das, Anibh M AM; Naim, Hassan Y HY
Publication Date: 2019-03-28

Variant appearance in text: NPC1: D874V
PubMed Link: 30923329
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_41707.pdf
View BVdb publication page



Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07

Variant appearance in text: NPC1: D874V
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect.

Orphanet Journal Of Rare Diseases
Nadjar, Yann Y; Hütter-Moncada, Ana Lucia AL; Latour, Philippe P; Ayrignac, Xavier X; Kaphan, Elsa E; Tranchant, Christine C; Cintas, Pascal P; Degardin, Adrian A; Goizet, Cyril C; Laurencin, Chloe C; Martzolff, Lionel L; Tilikete, Caroline C; Anheim, Mathieu M; Audoin, Bertrand B; Deramecourt, Vincent V; De Gaillarbois, Thierry Dubard TD; Roze, Emmanuel E; Lamari, Foudil F; Vanier, Marie T MT; Héron, Bénédicte B
Publication Date: 2018-10-01

Variant appearance in text: NPC1: D874V
PubMed Link: 30285904
Variant Present in the following documents:
  • Main text
  • 13023_2018_Article_913.pdf
View BVdb publication page



Consensus clinical management guidelines for Niemann-Pick disease type C.

Orphanet Journal Of Rare Diseases
Geberhiwot, Tarekegn T; Moro, Alessandro A; Dardis, Andrea A; Ramaswami, Uma U; Sirrs, Sandra S; Marfa, Mercedes Pineda MP; Vanier, Marie T MT; Walterfang, Mark M; Bolton, Shaun S; Dawson, Charlotte C; Héron, Bénédicte B; Stampfer, Miriam M; Imrie, Jackie J; Hendriksz, Christian C; Gissen, Paul P; Crushell, Ellen E; Coll, Maria J MJ; Nadjar, Yann Y; Klünemann, Hans H; Mengel, Eugen E; Hrebicek, Martin M; Jones, Simon A SA; Ory, Daniel D; Bembi, Bruno B; Patterson, Marc M; ,
Publication Date: 2018-04-06

Variant appearance in text: NPC1: D874V
PubMed Link: 29625568
Variant Present in the following documents:
  • Main text
  • 13023_2018_Article_785.pdf
View BVdb publication page



Altered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in niemann- pick disease type C.

Acta Neuropathologica Communications
Dardis, A A; Zampieri, S S; Canterini, S S; Newell, K L KL; Stuani, C C; Murrell, J R JR; Ghetti, B B; Fiorenza, M T MT; Bembi, B B; Buratti, E E
Publication Date: 2016-05-18

Variant appearance in text: NPC1: D874V
PubMed Link: 27193329
Variant Present in the following documents:
  • Main text
  • 40478_2016_Article_325.pdf
View BVdb publication page



Reduced Myelin Water in the White Matter Tracts of Patients with Niemann-Pick Disease Type C.

Ajnr. American Journal Of Neuroradiology
Davies-Thompson, J J; Vavasour, I I; Scheel, M M; Rauscher, A A; Barton, J J S JJ
Publication Date: 2016-08

Variant appearance in text: NPC1: 2621A>T; Asp874Val
PubMed Link: 26939636
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: 2621A>T; Asp874Val
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: D874V
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: D874V
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
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: 2621A>T; D874V; rs372030650
PubMed Link: 25764212
Variant Present in the following documents:
  • Main text
  • emss-62276.pdf
View BVdb publication page



Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study.

Human Molecular Genetics
Bauer, Peter P; Balding, David J DJ; Klünemann, Hans H HH; Linden, David E J DE; Ory, Daniel S DS; Pineda, Mercè M; Priller, Josef J; Sedel, Frederic F; Muller, Audrey A; Chadha-Boreham, Harbajan H; Welford, Richard W D RW; Strasser, Daniel S DS; Patterson, Marc C MC
Publication Date: 2013-11-01

Variant appearance in text: NPC1: 2621A>T; Asp874Val
PubMed Link: 23773996
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mitotic spindle defects and chromosome mis-segregation induced by LDL/cholesterol-implications for Niemann-Pick C1, Alzheimer's disease, and atherosclerosis.

Plos One
Granic, Antoneta A; Potter, Huntington H
Publication Date: 2013

Variant appearance in text: NPC1: ASP874VAL
PubMed Link: 23593294
Variant Present in the following documents:
  • Main text
  • pone.0060718.pdf
View BVdb publication page



The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes.

Journal Of Lipid Research
Garver, William S WS; Jelinek, David D; Meaney, F John FJ; Flynn, James J; Pettit, Kathleen M KM; Shepherd, Glen G; Heidenreich, Randall A RA; Vockley, Cate M Walsh CM; Castro, Graciela G; Francis, Gordon A GA
Publication Date: 2010-02

Variant appearance in text: NPC1: D874V
PubMed Link: 19744920
Variant Present in the following documents:
  • Main text
View BVdb publication page



Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.

American Journal Of Human Genetics
Sun, X X; Marks, D L DL; Park, W D WD; Wheatley, C L CL; Puri, V V; O'Brien, J F JF; Kraft, D L DL; Lundquist, P A PA; Patterson, M C MC; Pagano, R E RE; Snow, K K
Publication Date: 2001-06

Variant appearance in text: NPC1: D874V
PubMed Link: 11349231
Variant Present in the following documents:
  • Main text
View BVdb publication page



Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.

American Journal Of Human Genetics
Millat, G G; Marçais, C C; Tomasetto, C C; Chikh, K K; Fensom, A H AH; Harzer, K K; Wenger, D A DA; Ohno, K K; Vanier, M T MT
Publication Date: 2001-06

Variant appearance in text: NPC1: D874V
PubMed Link: 11333381
Variant Present in the following documents:
  • Main text
View BVdb publication page