NPC1 c.3259T>C ;(p.F1087L)

Variant ID: 18-21115651-A-G

NM_000271.4(NPC1):c.3259T>C;(p.F1087L)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Correlation of age of onset and clinical severity in Niemann-Pick disease type C1 with lysosomal abnormalities and gene expression.

Scientific Reports
Baxter, Laura L LL; Watkins-Chow, Dawn E DE; Johnson, Nicholas L NL; Farhat, Nicole Y NY; Platt, Frances M FM; Dale, Ryan K RK; Porter, Forbes D FD; Pavan, William J WJ; Rodriguez-Gil, Jorge L JL
Publication Date: 2022-02-09

Variant appearance in text: NPC1: 3259T>C; F1087L
PubMed Link: 35140266
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_6112.pdf
View BVdb publication page



Correlation of age of onset and clinical severity in Niemann-Pick disease type C1 with lysosomal abnormalities and gene expression.

Scientific Reports
Baxter, Laura L LL; Watkins-Chow, Dawn E DE; Johnson, Nicholas L NL; Farhat, Nicole Y NY; Platt, Frances M FM; Dale, Ryan K RK; Porter, Forbes D FD; Pavan, William J WJ; Rodriguez-Gil, Jorge L JL
Publication Date: 2022-02-09

Variant appearance in text: NPC1: 3259T>C; F1087L
PubMed Link: 35140266
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_6112.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: F1087L
PubMed Link: 27238017
Variant Present in the following documents:
  • mmc1.pdf
  • mmc2.pdf
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: 3259T>C; Phe1087Leu
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: F1087L
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: F1087L
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



Clinical and genetic characteristics of mexican patients with juvenile presentation of niemann-pick type C disease.

Case Reports In Neurological Medicine
Piña-Aguilar, Raul E RE; Vera-Loaiza, Aurea A; Chacón-Camacho, Oscar F OF; Zenteno, Juan Carlos JC; Nuñez-Orozco, Lilia L; Santillán-Hernández, Yuritzi Y
Publication Date: 2014

Variant appearance in text: NPC1: 3259T>C; F1087L
PubMed Link: 25349751
Variant Present in the following documents:
  • Main text
  • CRINM2014-785890.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: F1087L
PubMed Link: 19744920
Variant Present in the following documents:
  • Main text
View BVdb publication page