ABCA1 c.2043C>A ;(p.L681=)

Variant ID: 9-107591269-G-T

NM_005502.3(ABCA1):c.2043C>A;(p.L681=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature.

Nature Communications
Inman, Gareth J GJ; Wang, Jun J; Nagano, Ai A; Alexandrov, Ludmil B LB; Purdie, Karin J KJ; Taylor, Richard G RG; Sherwood, Victoria V; Thomson, Jason J; Hogan, Sarah S; Spender, Lindsay C LC; South, Andrew P AP; Stratton, Michael M; Chelala, Claude C; Harwood, Catherine A CA; Proby, Charlotte M CM; Leigh, Irene M IM
Publication Date: 2018-09-10

Variant appearance in text: ABCA1: L681L
PubMed Link: 30202019
Variant Present in the following documents:
  • 41467_2018_6027_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



LDL-apheresis depletes apoE-HDL and pre-β1-HDL in familial hypercholesterolemia: relevance to atheroprotection.

Journal Of Lipid Research
Orsoni, Alexina A; Saheb, Samir S; Levels, Johannes H M JHM; Dallinga-Thie, Geesje G; Atassi, Marielle M; Bittar, Randa R; Robillard, Paul P; Bruckert, Eric E; Kontush, Anatol A; Carrié, Alain A; Chapman, M John MJ
Publication Date: 2011-12

Variant appearance in text: ABCA1: 2043C>A
PubMed Link: 21957200
Variant Present in the following documents:
  • Main text
View BVdb publication page