Variant ID: 19-11218079-G-A

NM_000527.4(LDLR):c.829G>A;(p.E277K)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


The QChip1 knowledgebase and microarray for precision medicine in Qatar.

Npj Genomic Medicine
Rodriguez-Flores, Juan L JL; Messai-Badji, Radja R; Robay, Amal A; Temanni, Ramzi R; Syed, Najeeb N; Markovic, Monika M; Al-Khayat, Eiman E; Qafoud, Fatima F; Nawaz, Zafar Z; Badii, Ramin R; Al-Sarraj, Yasser Y; Mbarek, Hamdi H; Al-Muftah, Wadha W; Alvi, Muhammad M; Rostami, Mahboubeh R MR; Cruzado, Juan Carlos Martinez JCM; Mezey, Jason G JG; Shakaki, Alya Al AA; Malek, Joel A JA; Greenblatt, Matthew B MB; Fakhro, Khalid A KA; Machaca, Khaled K; Al-Nabet, Ajayeb A; Afifi, Nahla N; Brooks, Andrew A; Ismail, Said I SI; Althani, Asmaa A; Crystal, Ronald G RG
Publication Date: 2022-01-19

Variant appearance in text: rs148698650
PubMed Link: 35046417
Variant Present in the following documents:
  • Main text
  • 41525_2021_Article_270.pdf
View BVdb publication page



The Prevalence of Heterozygous Familial Hypercholesterolemia in Selected Regions of the Russian Federation: The FH-ESSE-RF Study.

Journal Of Personalized Medicine
Meshkov, Alexey N AN; Ershova, Alexandra I AI; Kiseleva, Anna V AV; Shalnova, Svetlana A SA; Drapkina, Oxana M OM; Boytsov, Sergey A SA; On Behalf Of The Fh-Esse-Rf Investigators,
Publication Date: 2021-05-24

Variant appearance in text: LDLR: 829G>A; Glu277Lys; rs148698650
PubMed Link: 34074024
Variant Present in the following documents:
  • Main text
View BVdb publication page



The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.

Genes
Meshkov, Alexey A; Ershova, Alexandra A; Kiseleva, Anna A; Zotova, Evgenia E; Sotnikova, Evgeniia E; Petukhova, Anna A; Zharikova, Anastasia A; Malyshev, Pavel P; Rozhkova, Tatyana T; Blokhina, Anastasia A; Limonova, Alena A; Ramensky, Vasily V; Divashuk, Mikhail M; Khasanova, Zukhra Z; Bukaeva, Anna A; Kurilova, Olga O; Skirko, Olga O; Pokrovskaya, Maria M; Mikova, Valeriya V; Snigir, Ekaterina E; Akinshina, Alexsandra A; Mitrofanov, Sergey S; Kashtanova, Daria D; Makarov, Valentin V; Kukharchuk, Valeriy V; Boytsov, Sergey S; Yudin, Sergey S; Drapkina, Oxana O
Publication Date: 2021-01-06

Variant appearance in text: LDLR: 829G>A; Glu277Lys; rs148698650
PubMed Link: 33418990
Variant Present in the following documents:
  • Main text
  • genes-12-00066.pdf
View BVdb publication page



Ensembl variation resources.

Database : The Journal Of Biological Databases And Curation
Hunt, Sarah E SE; McLaren, William W; Gil, Laurent L; Thormann, Anja A; Schuilenburg, Helen H; Sheppard, Dan D; Parton, Andrew A; Armean, Irina M IM; Trevanion, Stephen J SJ; Flicek, Paul P; Cunningham, Fiona F
Publication Date: 2018-01-01

Variant appearance in text: rs148698650
PubMed Link: 30576484
Variant Present in the following documents:
  • Main text
View BVdb publication page



Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants.

International Journal Of Molecular Sciences
Benito-Vicente, Asier A; Uribe, Kepa B KB; Jebari, Shifa S; Galicia-Garcia, Unai U; Ostolaza, Helena H; Martin, Cesar C
Publication Date: 2018-06-05

Variant appearance in text: LDLR: 829G>A; Glu277Lys
PubMed Link: 29874871
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals.

European Journal Of Human Genetics : Ejhg
Safarova, Maya S MS; Klee, Eric W EW; Baudhuin, Linnea M LM; Winkler, Erin M EM; Kluge, Michelle L ML; Bielinski, Suzette J SJ; Olson, Janet E JE; Kullo, Iftikhar J IJ
Publication Date: 2017-04

Variant appearance in text: LDLR: 829G>A; Glu277Lys; rs148698650
PubMed Link: 28145427
Variant Present in the following documents:
  • Main text
View BVdb publication page



Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France.

Journal Of Lipid Research
Wintjens, René R; Bozon, Dominique D; Belabbas, Khaldia K; MBou, Félicien F; Girardet, Jean-Philippe JP; Tounian, Patrick P; Jolly, Mathilde M; Boccara, Franck F; Cohen, Ariel A; Karsenty, Alexandra A; Dubern, Béatrice B; Carel, Jean-Claude JC; Azar-Kolakez, Ahlam A; Feillet, François F; Labarthe, François F; Gorsky, Anne-Marie Colin AM; Horovitz, Alice A; Tamarindi, Catherine C; Kieffer, Pierre P; Lienhardt, Anne A; Lascols, Olivier O; Di Filippo, Mathilde M; Dufernez, Fabienne F
Publication Date: 2016-03

Variant appearance in text: LDLR: Glu277Lys
PubMed Link: 26802169
Variant Present in the following documents:
  • Main text
View BVdb publication page



Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.

Plos Genetics
Thormaehlen, Aenne S AS; Schuberth, Christian C; Won, Hong-Hee HH; Blattmann, Peter P; Joggerst-Thomalla, Brigitte B; Theiss, Susanne S; Asselta, Rosanna R; Duga, Stefano S; Merlini, Pier Angelica PA; Ardissino, Diego D; Lander, Eric S ES; Gabriel, Stacey S; Rader, Daniel J DJ; Peloso, Gina M GM; Pepperkok, Rainer R; Kathiresan, Sekar S; Runz, Heiko H
Publication Date: 2015-02

Variant appearance in text: LDLR: E277K
PubMed Link: 25647241
Variant Present in the following documents:
  • Main text
View BVdb publication page