LDLR c.1502C>A ;(p.A501E)

Variant ID: 19-11224354-C-A

NM_000527.4(LDLR):c.1502C>A;(p.A501E)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: LDLR: 1502C>A; Ala501Glu
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Polygenic Contribution to Low-Density Lipoprotein Cholesterol Levels and Cardiovascular Risk in Monogenic Familial Hypercholesterolemia.

Circulation. Genomic And Precision Medicine
Trinder, Mark M; Paquette, Martine M; Cermakova, Lubomira L; Ban, Matthew R MR; Hegele, Robert A RA; Baass, Alexis A; Brunham, Liam R LR
Publication Date: 2020-10

Variant appearance in text: rs755667663
PubMed Link: 33079599
Variant Present in the following documents:
  • hcg-13-515-s001.pdf
View BVdb publication page



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: A501E
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Association of Monogenic vs Polygenic Hypercholesterolemia With Risk of Atherosclerotic Cardiovascular Disease.

Jama Cardiology
Trinder, Mark M; Francis, Gordon A GA; Brunham, Liam R LR
Publication Date: 2020-04-01

Variant appearance in text: rs755667663
PubMed Link: 32049305
Variant Present in the following documents:
  • jamacardiol-5-390-s001.pdf
View BVdb publication page



Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology
Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP
Publication Date: 2015-03

Variant appearance in text: LDLR: A501E
PubMed Link: 25794154
Variant Present in the following documents:
  • pcbi.1004147.s001.xlsx, sheet 1
View BVdb publication page



Exomic sequencing of four rare central nervous system tumor types.

Oncotarget
Bettegowda, Chetan C; Agrawal, Nishant N; Jiao, Yuchen Y; Wang, Yuxuan Y; Wood, Laura D LD; Rodriguez, Fausto J FJ; Hruban, Ralph H RH; Gallia, Gary L GL; Binder, Zev A ZA; Riggins, Callen J CJ; Salmasi, Vafi V; Riggins, Gregory J GJ; Reitman, Zachary J ZJ; Rasheed, Ahmed A; Keir, Stephen S; Shinjo, Sueli S; Marie, Suely S; McLendon, Roger R; Jallo, George G; Vogelstein, Bert B; Bigner, Darell D; Yan, Hai H; Kinzler, Kenneth W KW; Papadopoulos, Nickolas N
Publication Date: 2013-04

Variant appearance in text: LDLR: A501E
PubMed Link: 23592488
Variant Present in the following documents:
  • oncotarget-04-572-s001.xlsx, sheet 4
View BVdb publication page