ABCA1 c.431T>G ;(p.L144R)

Variant ID: 9-107624072-A-C

NM_005502.3(ABCA1):c.431T>G;(p.L144R)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Molecular and functional profiling identifies therapeutically targetable vulnerabilities in plasmablastic lymphoma.

Nature Communications
Frontzek, Fabian F; Staiger, Annette M AM; Zapukhlyak, Myroslav M; Xu, Wendan W; Bonzheim, Irina I; Borgmann, Vanessa V; Sander, Philip P; Baptista, Maria Joao MJ; Heming, Jan-Niklas JN; Berning, Philipp P; Wullenkord, Ramona R; Erdmann, Tabea T; Lutz, Mathias M; Veratti, Pia P; Ehrenfeld, Sophia S; Wienand, Kirsty K; Horn, Heike H; Goodlad, John R JR; Wilson, Matthew R MR; Anagnostopoulos, Ioannis I; Lamping, Mario M; Gonzalez-Barca, Eva E; Climent, Fina F; Salar, Antonio A; Castellvi, Josep J; Abrisqueta, Pau P; Menarguez, Javier J; Aldamiz, Teresa T; Richter, Julia J; Klapper, Wolfram W; Tzankov, Alexandar A; Dirnhofer, Stefan S; Rosenwald, Andreas A; Mate, José Luis JL; Tapia, Gustavo G; Lenz, Peter P; Miething, Cornelius C; Hartmann, Wolfgang W; Chapuy, Björn B; Fend, Falko F; Ott, German G; Navarro, José-Tomas JT; Grau, Michael M; Lenz, Georg G
Publication Date: 2021-08-31

Variant appearance in text: ABCA1: 431T>G; L144R
PubMed Link: 34465776
Variant Present in the following documents:
  • 41467_2021_25405_MOESM7_ESM.xlsx, sheet 2
View BVdb publication page



Lipids and Lipoproteins in Health and Disease: Focus on Targeting Atherosclerosis.

Biomedicines
Lee, Chih-Kuo CK; Liao, Che-Wei CW; Meng, Shih-Wei SW; Wu, Wei-Kai WK; Chiang, Jiun-Yang JY; Wu, Ming-Shiang MS
Publication Date: 2021-08-09

Variant appearance in text: ABCA1: L144R
PubMed Link: 34440189
Variant Present in the following documents:
  • biomedicines-09-00985.pdf
View BVdb publication page



Role of apolipoproteins, ABCA1 and LCAT in the biogenesis of normal and aberrant high density lipoproteins.

Journal Of Biomedical Research
Zannis, Vassilis I VI; Su, Shi S; Fotakis, Panagiotis P
Publication Date: 2017-11-04

Variant appearance in text: ABCA1: L144R
PubMed Link: 29109329
Variant Present in the following documents:
  • Main text
  • jbr-31-06-471.pdf
View BVdb publication page



Structural Insights into High Density Lipoprotein: Old Models and New Facts.

Frontiers In Pharmacology
Gogonea, Valentin V
Publication Date: 2015

Variant appearance in text: ABCA1: L144R
PubMed Link: 26793109
Variant Present in the following documents:
  • fphar-06-00318.pdf
View BVdb publication page



Population-based resequencing of APOA1 in 10,330 individuals: spectrum of genetic variation, phenotype, and comparison with extreme phenotype approach.

Plos Genetics
Haase, Christiane L CL; Frikke-Schmidt, Ruth R; Nordestgaard, Børge G BG; Tybjærg-Hansen, Anne A
Publication Date: 2012

Variant appearance in text: ABCA1: L144R
PubMed Link: 23209431
Variant Present in the following documents:
  • pgen.1003063.pdf
  • pgen.1003063.s004.pdf
View BVdb publication page