LDLR c.1004G>T ;(p.G335V)

Variant ID: 19-11221391-G-T

NM_000527.4(LDLR):c.1004G>T;(p.G335V)

This variant was identified in 5 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: 1004G>T; Gly335Val
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



ANGPTL3 Inhibition With Evinacumab Results in Faster Clearance of IDL and LDL apoB in Patients With Homozygous Familial Hypercholesterolemia-Brief Report.

Arteriosclerosis, Thrombosis, And Vascular Biology
Reeskamp, Laurens F LF; Millar, John S JS; Wu, Liya L; Jansen, Hans H; van Harskamp, Dewi D; Schierbeek, Henk H; Gipe, Daniel A DA; Rader, Daniel J DJ; Dallinga-Thie, Geesje M GM; Hovingh, G Kees GK; Cuchel, Marina M
Publication Date: 2021-05-05

Variant appearance in text: LDLR: Gly335Val
PubMed Link: 33691480
Variant Present in the following documents:
  • atv-41-1753.pdf
View BVdb publication page



Angiopoietin-like proteins inhibitors: New horizons in the treatment of atherogenic dyslipidemia and familial hypercholesterolemia.

Cardiology Journal
Surma, Stanisław S; Romańczyk, Monika M; Filipiak, Krzysztof J KJ
Publication Date: 2021-01-20

Variant appearance in text: LDLR: Gly335Val
PubMed Link: 33470417
Variant Present in the following documents:
  • cardj-30-1-131.pdf
View BVdb publication page



Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.

Scientific Reports
Galicia-Garcia, Unai U; Benito-Vicente, Asier A; Uribe, Kepa B KB; Jebari, Shifa S; Larrea-Sebal, Asier A; Alonso-Estrada, Rocio R; Aguilo-Arce, Joseba J; Ostolaza, Helena H; Palacios, Lourdes L; Martin, Cesar C
Publication Date: 2020-02-03

Variant appearance in text: LDLR: 1004G>T; Gly335Val
PubMed Link: 32015373
Variant Present in the following documents:
  • 41598_2020_58734_MOESM1_ESM.pdf
View BVdb publication page



Functional Analysis of LDLR (Low-Density Lipoprotein Receptor) Variants in Patient Lymphocytes to Assess the Effect of Evinacumab in Homozygous Familial Hypercholesterolemia Patients With a Spectrum of LDLR Activity.

Arteriosclerosis, Thrombosis, And Vascular Biology
Banerjee, Poulabi P; Chan, Kuo-Chen KC; Tarabocchia, Michel M; Benito-Vicente, Asier A; Alves, Ana C AC; Uribe, Kepa B KB; Bourbon, Mafalda M; Skiba, Paul J PJ; Pordy, Robert R; Gipe, Daniel A DA; Gaudet, Daniel D; Martin, Cesar C
Publication Date: 2019-11

Variant appearance in text: LDLR: 1004G>T; Gly335Val
PubMed Link: 31578082
Variant Present in the following documents:
  • Main text
  • atv-39-2248.pdf
View BVdb publication page