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NPC1 c.3639G>T ;(p.L1213F)
Variant ID: 18-21113434-C-A
NM_000271.4(
NPC1
):c.3639G>T;(p.L1213F)
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Case Report: Be Aware of "New" Features of Niemann-Pick Disease: Insights From Two Pediatric Cases.
Frontiers In Genetics
Chen, Fan F; Guo, Shan S; Li, Xuesong X; Liu, Shengxuan S; Wang, Li L; Zhang, Victor Wei VW; Xu, Hui H; Huang, Zhihua Z; Ying, Yanqin Y; Shu, Sainan S
Publication Date: 2022
Variant appearance in text: NPC1: Leu1213Phe
PubMed Link:
35360843
Variant Present in the following documents:
Main text
fgene-13-845246.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: L1213F
PubMed Link:
31509197
Variant Present in the following documents:
Main text
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: L1213F
PubMed Link:
30923329
Variant Present in the following documents:
Main text
41598_2019_Article_41707.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: L1213F
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: L1213F
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page