LCAT c.301G>A ;(p.D101N)

Variant ID: 16-67976969-C-T

NM_000229.1(LCAT):c.301G>A;(p.D101N)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


The metabolic genomic atlas reveals potential drivers and clinically relevant insights into the etiology of esophageal squamous cell carcinoma.

Theranostics
Liu, Xuesong X; Hong, Ruoxi R; Du, Peina P; Yang, Di D; He, Meibo M; Wu, Qingnan Q; Li, Lin L; Wang, Yan Y; Chen, Jie J; Min, Qingjie Q; Li, Jinting J; Zhang, Weimin W; Zhan, Qimin Q
Publication Date: 2022

Variant appearance in text: LCAT: 301G>A; D101N
PubMed Link: 36168622
Variant Present in the following documents:
  • thnov12p6160s2.xlsx, sheet 2
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: 301G>A; Asp101Asn
PubMed Link: 35065092
Variant Present in the following documents:
  • mmc1.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: 301G>A; D101N
PubMed Link: 30333156
Variant Present in the following documents:
  • Main text
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: 301G>A; D101N
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page