LDLR c.2483A>G ;(p.Y828C)

Variant ID: 19-11240282-A-G

NM_000527.4(LDLR):c.2483A>G;(p.Y828C)

This variant was identified in 16 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: 2483A>G; Tyr828Cys
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature
Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D
Publication Date: 2023-02-08

Variant appearance in text: LDLR: 2483A>G; Tyr828Cys
PubMed Link: 36755093
Variant Present in the following documents:
  • 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



A Selective Screening Strategy Performed in Pre-School Children and Siblings to Detect Familial Hypercholesterolemia.

Children (Basel, Switzerland)
Thajer, Alexandra A; Baumgartner, Margot M; Jorda, Anselm A; Hallwirth, Ulrike U; Lischka, Julia J; Greber-Platzer, Susanne S
Publication Date: 2022-04-21

Variant appearance in text: LDLR: 2483A>G; Tyr828Cys
PubMed Link: 35626767
Variant Present in the following documents:
  • children-09-00590.pdf
View BVdb publication page



Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances
Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X
Publication Date: 2020-07

Variant appearance in text: LDLR: 2483A>G; Tyr828Cys
PubMed Link: 32832622
Variant Present in the following documents:
  • aba1773_Data_file_S1.xlsx, sheet 2
View BVdb publication page



Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10

Variant appearance in text: LDLR: 2483A>G; Tyr828Cys
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



The functional landscape of the human phosphoproteome.

Nature Biotechnology
Ochoa, David D; Jarnuczak, Andrew F AF; Viéitez, Cristina C; Gehre, Maja M; Soucheray, Margaret M; Mateus, André A; Kleefeldt, Askar A AA; Hill, Anthony A; Garcia-Alonso, Luz L; Stein, Frank F; Krogan, Nevan J NJ; Savitski, Mikhail M MM; Swaney, Danielle L DL; Vizcaíno, Juan A JA; Noh, Kyung-Min KM; Beltrao, Pedro P
Publication Date: 2020-03

Variant appearance in text: LDLR: 2483A>G; Tyr828Cys
PubMed Link: 31819260
Variant Present in the following documents:
  • EMS84831-supplement-Table_S5.xlsx, sheet 1
View BVdb publication page



In search of a genetic explanation for LDLc variability in an FH family: common SNPs and a rare mutation in MTTP explain only part of LDL variability in an FH family.

Journal Of Lipid Research
Winther, Michael M; Shpitzen, Shoshi S; Yaacov, Or O; Landau, Jakob J; Oren, Limor L; Foroozan-Rosenberg, Linda L; Lev Cohain, Naama N; Schurr, Daniel D; Meiner, Vardiela V; Szalat, Auryan A; Carmi, Shai S; Hayden, Michael R MR; Leitersdorf, Eran E; Durst, Ronen R
Publication Date: 2019-10

Variant appearance in text: LDLR: 2483A>G; Tyr828Cys; rs28942085
PubMed Link: 31387896
Variant Present in the following documents:
  • Main text
View BVdb publication page



Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics
Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F
Publication Date: 2019-07-25

Variant appearance in text: LDLR: Y828C
PubMed Link: 31345222
Variant Present in the following documents:
  • 12920_2019_543_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: LDLR: 2483A>G; Tyr828Cys
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
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: 2483A>G; Tyr828Cys
PubMed Link: 29874871
Variant Present in the following documents:
  • Main text
  • ijms-19-01676.pdf
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: LDLR: 2483A>G; Tyr828Cys
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



The Proprotein Convertase Subtilisin/Kexin Type 9-resistant R410S Low Density Lipoprotein Receptor Mutation: A NOVEL MECHANISM CAUSING FAMILIAL HYPERCHOLESTEROLEMIA.

The Journal Of Biological Chemistry
Susan-Resiga, Delia D; Girard, Emmanuelle E; Kiss, Robert Scott RS; Essalmani, Rachid R; Hamelin, Josée J; Asselin, Marie-Claude MC; Awan, Zuhier Z; Butkinaree, Chutikarn C; Fleury, Alexandre A; Soldera, Armand A; Dory, Yves L YL; Baass, Alexis A; Seidah, Nabil G NG
Publication Date: 2017-02-03

Variant appearance in text: LDLR: Y828C
PubMed Link: 27998977
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs28942085
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.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: Y828C
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
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: Y828C
PubMed Link: 25647241
Variant Present in the following documents:
  • Main text
  • pgen.1004855.s019.xlsx, sheet 1
  • pgen.1004855.pdf
View BVdb publication page



The LXR-IDOL axis defines a clathrin-, caveolae-, and dynamin-independent endocytic route for LDLR internalization and lysosomal degradation.

Journal Of Lipid Research
Sorrentino, Vincenzo V; Nelson, Jessica K JK; Maspero, Elena E; Marques, André R A ARA; Scheer, Lilith L; Polo, Simona S; Zelcer, Noam N
Publication Date: 2013-08

Variant appearance in text: LDLR: Y828C
PubMed Link: 23733886
Variant Present in the following documents:
  • Main text
View BVdb publication page