NPC1L1 c.1300G>A ;(p.G434R)

Variant ID: 7-44578696-C-T

NM_001101648.1(NPC1L1):c.1300G>A;(p.G434R)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: NPC1L1: 1300G>A; G434R
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: NPC1L1: 1300G>A; Gly434Arg; rs114375162
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Integrative molecular and clinical modeling of clinical outcomes to PD1 blockade in patients with metastatic melanoma.

Nature Medicine
Liu, David D; Schilling, Bastian B; Liu, Derek D; Sucker, Antje A; Livingstone, Elisabeth E; Jerby-Arnon, Livnat L; Zimmer, Lisa L; Gutzmer, Ralf R; Satzger, Imke I; Loquai, Carmen C; Grabbe, Stephan S; Vokes, Natalie N; Margolis, Claire A CA; Conway, Jake J; He, Meng Xiao MX; Elmarakeby, Haitham H; Dietlein, Felix F; Miao, Diana D; Tracy, Adam A; Gogas, Helen H; Goldinger, Simone M SM; Utikal, Jochen J; Blank, Christian U CU; Rauschenberg, Ricarda R; von Bubnoff, Dagmar D; Krackhardt, Angela A; Weide, Benjamin B; Haferkamp, Sebastian S; Kiecker, Felix F; Izar, Ben B; Garraway, Levi L; Regev, Aviv A; Flaherty, Keith K; Paschen, Annette A; Van Allen, Eliezer M EM; Schadendorf, Dirk D
Publication Date: 2019-12

Variant appearance in text: NPC1L1: 1300G>A
PubMed Link: 31792460
Variant Present in the following documents:
  • 41591_2019_654_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



GutSelf: Interindividual Variability in the Processing of Dietary Compounds by the Human Gastrointestinal Tract.

Molecular Nutrition & Food Research
Walther, Barbara B; Lett, Aaron M AM; Bordoni, Alessandra A; Tomás-Cobos, Lidia L; Nieto, Juan Antonio JA; Dupont, Didier D; Danesi, Francesca F; Shahar, Danit R DR; Echaniz, Ana A; Re, Roberta R; Fernandez, Aida Sainz AS; Deglaire, Amélie A; Gille, Doreen D; Schmid, Alexandra A; Vergères, Guy G
Publication Date: 2019-11

Variant appearance in text: NPC1L1: Gly434Arg; rs114375162
PubMed Link: 31483113
Variant Present in the following documents:
  • Main text
  • MNFR-63-na.pdf
View BVdb publication page



Vitamin E Metabolic Effects and Genetic Variants: A Challenge for Precision Nutrition in Obesity and Associated Disturbances.

Nutrients
Galmés, Sebastià S; Serra, Francisca F; Palou, Andreu A
Publication Date: 2018-12-04

Variant appearance in text: NPC1L1: Gly434Arg; rs114375162
PubMed Link: 30518135
Variant Present in the following documents:
  • Main text
  • nutrients-10-01919.pdf
View BVdb publication page



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: rs114375162
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Transporters for the Intestinal Absorption of Cholesterol, Vitamin E, and Vitamin K.

Journal Of Atherosclerosis And Thrombosis
Yamanashi, Yoshihide Y; Takada, Tappei T; Kurauchi, Ryoya R; Tanaka, Yusuke Y; Komine, Toko T; Suzuki, Hiroshi H
Publication Date: 2017-04-03

Variant appearance in text: NPC1L1: G434R
PubMed Link: 28100881
Variant Present in the following documents:
  • Main text
  • jat-24-347.pdf
View BVdb publication page



Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
Publication Date: 2016-04-26

Variant appearance in text: NPC1L1: G434R
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



Complexity of vitamin E metabolism.

World Journal Of Biological Chemistry
Schmölz, Lisa L; Birringer, Marc M; Lorkowski, Stefan S; Wallert, Maria M
Publication Date: 2016-02-26

Variant appearance in text: NPC1L1: 1300G>A; G434R; rs114375162
PubMed Link: 26981194
Variant Present in the following documents:
  • Main text
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: G434R
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: G434R
PubMed Link: 21626528
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: G434R
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: 1300G>A; G434R
PubMed Link: 16449388
Variant Present in the following documents:
  • Main text
View BVdb publication page