LCAT c.491G>A ;(p.R164H)

Variant ID: 16-67976606-C-T

NM_000229.1(LCAT):c.491G>A;(p.R164H)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Publication Date: 2022-07-13

Variant appearance in text: LCAT: 491G>A; R164H
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



A systematic review of the natural history and biomarkers of primary lecithin:cholesterol acyltransferase deficiency.

Journal Of Lipid Research
Vitali, Cecilia C; Bajaj, Archna A; Nguyen, Christina C; Schnall, Jill J; Chen, Jinbo J; Stylianou, Kostas K; Rader, Daniel J DJ; Cuchel, Marina M
Publication Date: 2022-03

Variant appearance in text: LCAT: 491G>A; Arg164His
PubMed Link: 35065092
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



LCAT deficiency: a systematic review with the clinical and genetic description of Mexican kindred.

Lipids In Health And Disease
Mehta, Roopa R; Elías-López, Daniel D; Martagón, Alexandro J AJ; Pérez-Méndez, Oscar A OA; Sánchez, Maria Luisa Ordóñez MLO; Segura, Yayoi Y; Tusié, Maria Teresa MT; Aguilar-Salinas, Carlos A CA
Publication Date: 2021-07-13

Variant appearance in text: LCAT: 491G>A
PubMed Link: 34256778
Variant Present in the following documents:
  • 12944_2021_Article_1498.pdf
View BVdb publication page



Genetic and secondary causes of severe HDL deficiency and cardiovascular disease.

Journal Of Lipid Research
Geller, Andrew S AS; Polisecki, Eliana Y EY; Diffenderfer, Margaret R MR; Asztalos, Bela F BF; Karathanasis, Sotirios K SK; Hegele, Robert A RA; Schaefer, Ernst J EJ
Publication Date: 2018-12

Variant appearance in text: LCAT: 491G>A; R164H
PubMed Link: 30333156
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polygenic determinants in extremes of high-density lipoprotein cholesterol.

Journal Of Lipid Research
Dron, Jacqueline S JS; Wang, Jian J; Low-Kam, Cécile C; Khetarpal, Sumeet A SA; Robinson, John F JF; McIntyre, Adam D AD; Ban, Matthew R MR; Cao, Henian H; Rhainds, David D; Dubé, Marie-Pierre MP; Rader, Daniel J DJ; Lettre, Guillaume G; Tardif, Jean-Claude JC; Hegele, Robert A RA
Publication Date: 2017-11

Variant appearance in text: LCAT: 491G>A; R164H
PubMed Link: 28870971
Variant Present in the following documents:
  • 10.1194_M079822_jlr.M079822-1.pdf
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: LCAT: 491G>A; R164H
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
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: LCAT: R164H
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page