LDLR c.1447T>A ;(p.W483R)

Variant ID: 19-11224299-T-A

NM_000527.4(LDLR):c.1447T>A;(p.W483R)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: LDLR: W483R
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Rare Genetic Variants Associated With Sudden Cardiac Death in Adults.

Journal Of The American College Of Cardiology
Khera, Amit V AV; Mason-Suares, Heather H; Brockman, Deanna D; Wang, Minxian M; VanDenburgh, Martin J MJ; Senol-Cosar, Ozlem O; Patterson, Candace C; Newton-Cheh, Christopher C; Zekavat, Seyedeh M SM; Pester, Julie J; Chasman, Daniel I DI; Kabrhel, Christopher C; Jensen, Majken K MK; Manson, JoAnn E JE; Gaziano, J Michael JM; Taylor, Kent D KD; Sotoodehnia, Nona N; Post, Wendy S WS; Rich, Stephen S SS; Rotter, Jerome I JI; Lander, Eric S ES; Rehm, Heidi L HL; Ng, Kenney K; Philippakis, Anthony A; Lebo, Matthew M; Albert, Christine M CM; Kathiresan, Sekar S
Publication Date: 2019-11-26

Variant appearance in text: LDLR: Trp483Arg
PubMed Link: 31727422
Variant Present in the following documents:
  • Main text
View BVdb publication page



Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07

Variant appearance in text: LDLR: W483R
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
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: LDLR: W483R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research
Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH
Publication Date: 2009-03

Variant appearance in text: LDLR: W483R
PubMed Link: 19139070
Variant Present in the following documents:
  • gkn1008_nar-01723-s-2008-File009.xls, sheet 4
View BVdb publication page