NPC1 c.2728G>A ;(p.G910S)

Variant ID: 18-21119842-C-T

NM_000271.4(NPC1):c.2728G>A;(p.G910S)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


The Presence of Vacuolated Kupffer Cells Raises a Clinical Suspicion of Niemann-Pick Disease Type C in Neonatal Cholestasis.

Frontiers In Genetics
Wang, Neng-Li NL; Chen, Lian L; Lu, Yi Y; Xie, Xin-Bao XB; Lin, Jing J; Abuduxikuer, Kuerbanjiang K; Wang, Jian-She JS
Publication Date: 2022

Variant appearance in text: NPC1: 2728G>A; G910S
PubMed Link: 35368683
Variant Present in the following documents:
  • Main text
  • fgene-13-867413.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: rs768999208
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



Characterization of Niemann-Pick diseases genes mutation spectrum in Iran and identification of a novel mutation in SMPD1 gene.

Medical Journal Of The Islamic Republic Of Iran
Zahedi Abghari, Fateme F; Bayat, Fatemeh F; Razipour, Masoumeh M; Karimipoor, Morteza M; Taghavi-Basmenj, Maryam M; Zeinali, Sirous S; Davoudi-Dehaghani, Elham E
Publication Date: 2019

Variant appearance in text: NPC1: 2728G>A; Gly910Ser; rs768999208
PubMed Link: 32280632
Variant Present in the following documents:
  • Main text
  • mjiri-33-126.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: 2728G>A; G910S
PubMed Link: 32138288
Variant Present in the following documents:
  • Main text
  • jcm-09-00679.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: G910S
PubMed Link: 31509197
Variant Present in the following documents:
  • Main text
View BVdb publication page



Utility of rapid whole-exome sequencing in the diagnosis of Niemann-Pick disease type C presenting with fetal hydrops and acute liver failure.

Cold Spring Harbor Molecular Case Studies
Rohanizadegan, Mersedeh M; Abdo, Sara M SM; O'Donnell-Luria, Anne A; Mihalek, Ivana I; Chen, Peggy P; Sanders, Marilyn M; Leeman, Kristen K; Cho, Megan M; Hung, Christina C; Bodamer, Olaf O
Publication Date: 2017-11

Variant appearance in text: NPC1: 2728G>A; G910S
PubMed Link: 28802248
Variant Present in the following documents:
  • Main text
  • RohanizadeganMCS002147.pdf
View BVdb publication page



A Specially Designed Multi-Gene Panel Facilitates Genetic Diagnosis in Children with Intrahepatic Cholestasis: Simultaneous Test of Known Large Insertions/Deletions.

Plos One
Wang, Neng-Li NL; Lu, Yu-Lan YL; Zhang, Ping P; Zhang, Mei-Hong MH; Gong, Jing-Yu JY; Lu, Yi Y; Xie, Xin-Bao XB; Qiu, Yi-Ling YL; Yan, Yan-Yan YY; Wu, Bing-Bing BB; Wang, Jian-She JS
Publication Date: 2016

Variant appearance in text: NPC1: 2728G>A; G910S
PubMed Link: 27706244
Variant Present in the following documents:
  • Main text
  • pone.0164058.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: G910S
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: G910S
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



Site-1 protease-activated formation of lysosomal targeting motifs is independent of the lipogenic transcription control.

Journal Of Lipid Research
Klünder, Sarah S; Heeren, Jörg J; Markmann, Sandra S; Santer, René R; Braulke, Thomas T; Pohl, Sandra S
Publication Date: 2015-08

Variant appearance in text: NPC1: G910S
PubMed Link: 26108224
Variant Present in the following documents:
  • Main text
View BVdb publication page