NPC1L1 c.1859C>G ;(p.S620C)

Variant ID: 7-44575563-G-C

NM_001101648.1(NPC1L1):c.1859C>G;(p.S620C)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs373091710
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.

Journal Of Lipid Research
Calandra, Sebastiano S; Tarugi, Patrizia P; Speedy, Helen E HE; Dean, Andrew F AF; Bertolini, Stefano S; Shoulders, Carol C CC
Publication Date: 2011-11

Variant appearance in text: NPC1L1: S620C
PubMed Link: 21862702
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hepatic triglyceride content in individuals with reduced intestinal cholesterol absorption due to variants in Nieman Pick C1-like 1.

Hepatology (Baltimore, Md.)
Ramirez, Ruben R; Cohen, Jonathan C JC; Hobbs, Helen H HH; Browning, Jeffrey D JD
Publication Date: 2011-08

Variant appearance in text: NPC1L1: S620C
PubMed Link: 21626528
Variant Present in the following documents:
  • Main text
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Molecular characterization of the NPC1L1 variants identified from cholesterol low absorbers.

The Journal Of Biological Chemistry
Wang, Li-Juan LJ; Wang, Jing J; Li, Na N; Ge, Liang L; Li, Bo-Liang BL; Song, Bao-Liang BL
Publication Date: 2011-03-04

Variant appearance in text: NPC1L1: S620C
PubMed Link: 21189420
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Cohen, Jonathan C JC; Pertsemlidis, Alexander A; Fahmi, Saleemah S; Esmail, Sophie S; Vega, Gloria L GL; Grundy, Scott M SM; Hobbs, Helen H HH
Publication Date: 2006-02-07

Variant appearance in text: NPC1L1: 1859C>G; S620C
PubMed Link: 16449388
Variant Present in the following documents:
  • Main text
View BVdb publication page