LDLR c.1567G>A ;(p.V523M)

Variant ID: 19-11224419-G-A

NM_000527.4(LDLR):c.1567G>A;(p.V523M)

This variant was identified in 34 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: LDLR: V523M
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
View BVdb publication page



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: 1567G>A; Val523Met
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Low-density lipoprotein receptor genotypes modify the sera metabolome of patients with homozygous familial hypercholesterolemia.

Iscience
Du, Zhiyong Z; Li, Fan F; Li, Linyi L; Wang, Yu Y; Li, Jianping J; Yang, Ya Y; Jiang, Long L; Wang, Luya L; Qin, Yanwen Y
Publication Date: 2022-11-18

Variant appearance in text: LDLR: 1567G>A; Val523Met
PubMed Link: 36325061
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Prevalence and prognosis of molecularly defined familial hypercholesterolemia in patients with acute coronary syndrome.

Frontiers In Cardiovascular Medicine
Wang, Cheng C; Yu, Puliang P; Hu, Lizhi L; Liang, Minglu M; Mao, Yi Y; Zeng, Qiutang Q; Wang, Xiang X; Huang, Kai K; Yan, Jin J; Xie, Li L; Zhang, Fengxiao F; Zhu, Feng F
Publication Date: 2022

Variant appearance in text: LDLR: 1567G>A; V523M
PubMed Link: 35966514
Variant Present in the following documents:
View BVdb publication page



Characterization of Polyvascular Disease in Heterozygous Familial Hypercholesterolemia: Its Association With Circulating Lipoprotein(a) Levels.

Journal Of The American Heart Association
Funabashi, Sayaka S; Kataoka, Yu Y; Hori, Mika M; Ogura, Masatsune M; Doi, Takahito T; Noguchi, Teruo T; Harada-Shiba, Mariko M
Publication Date: 2022-08-16

Variant appearance in text: LDLR: 1567G>A; Val523Met; rs28942080
PubMed Link: 35929461
Variant Present in the following documents:
  • JAH3-11-e025232.pdf
  • JAH3-11-e025232-s001.pdf
View BVdb publication page



Effects of statins on the inducible degrader of low-density lipoprotein receptor in familial hypercholesterolemia.

Endocrine Connections
Chan, Melody Lok-Yi ML; Shiu, Sammy Wing-Ming SW; Cheung, Ching-Lung CL; Yu-Hung Leung, Anskar A; Tan, Kathryn Choon-Beng KC
Publication Date: 2022-06-15

Variant appearance in text: LDLR: 1567G>A
PubMed Link: 35560019
Variant Present in the following documents:
  • supplementary_table_1.pdf
View BVdb publication page



Effects of Different Types of Pathogenic Variants on Phenotypes of Familial Hypercholesterolemia.

Frontiers In Genetics
Tada, Hayato H; Kojima, Nobuko N; Yamagami, Kan K; Nomura, Akihiro A; Nohara, Atsushi A; Usui, Soichiro S; Sakata, Kenji K; Fujino, Noboru N; Takamura, Masayuki M; Kawashiri, Masa-Aki MA
Publication Date: 2022

Variant appearance in text: LDLR: 1567G>A; Val523Met
PubMed Link: 35480308
Variant Present in the following documents:
  • Presentation1.pdf
View BVdb publication page



Fast and Easy Nanopore Sequencing Workflow for Rapid Genetic Testing of Familial Hypercholesterolemia.

Frontiers In Genetics
Soufi, Muhidien M; Bedenbender, Simon S; Ruppert, Volker V; Kurt, Bilgen B; Schieffer, Bernhard B; Schaefer, Juergen R JR
Publication Date: 2022

Variant appearance in text: LDLR: 1567G>A; Val523Met; rs28942080
PubMed Link: 35222550
Variant Present in the following documents:
  • Main text
  • fgene-13-836231.pdf
View BVdb publication page



Calibrated rare variant genetic risk scores for complex disease prediction using large exome sequence repositories.

Nature Communications
Lali, Ricky R; Chong, Michael M; Omidi, Arghavan A; Mohammadi-Shemirani, Pedrum P; Le, Ann A; Cui, Edward E; Paré, Guillaume G
Publication Date: 2021-10-06

Variant appearance in text: LDLR: V523M
PubMed Link: 34615865
Variant Present in the following documents:
  • 41467_2021_26114_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Phenotypic and Genetic Analyses of Korean Patients with Familial Hypercholesterolemia: Results from the KFH Registry 2020.

Journal Of Atherosclerosis And Thrombosis
Kim, Hyoeun H; Lee, Chan Joo CJ; Kim, Sang-Hyun SH; Kim, Jang Young JY; Choi, Sung Hee SH; Kang, Hyun-Jae HJ; Park, Kyong Soo KS; Cho, Byung Ryul BR; Kim, Byung Jin BJ; Sung, Ki Chul KC; Jeong, In-Kyung IK; Jeong, Jin-Ok JO; Bae, Jang-Whan JW; Park, Jung Mi JM; Lee, Yunbeom Y; Jeong, Ilecheon I; Han, Hyojun H; Lee, Ji Hyun JH; Lee, Sang-Hak SH
Publication Date: 2022-08-01

Variant appearance in text: LDLR: V523M; rs28942080
PubMed Link: 34456200
Variant Present in the following documents:
  • jat-29-1176.pdf
View BVdb publication page



Unusual responses to PCSK9 inhibitors in a clinical cohort utilizing a structured follow-up protocol.

American Journal Of Preventive Cardiology
Warden, Bruce A BA; Miles, Joshua R JR; Oleaga, Carlota C; Ganda, Om P OP; Duell, P Barton PB; Purnell, Jonathan Q JQ; Shapiro, Michael D MD; Fazio, Sergio S
Publication Date: 2020-03

Variant appearance in text: LDLR: Val523Met
PubMed Link: 34327453
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.

Clinical Genetics
Di Taranto, Maria Donata MD; Giacobbe, Carola C; Palma, Daniela D; Iannuzzo, Gabriella G; Gentile, Marco M; Calcaterra, Ilenia I; Guardamagna, Ornella O; Auricchio, Renata R; Di Minno, Matteo Nicola Dario MND; Fortunato, Giuliana G
Publication Date: 2021-11

Variant appearance in text: LDLR: 1567G>A; Val523Met; rs28942080
PubMed Link: 34297352
Variant Present in the following documents:
  • Main text
  • CGE-100-529.pdf
View BVdb publication page



Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.

Jama Cardiology
Sturm, Amy C AC; Truty, Rebecca R; Callis, Thomas E TE; Aguilar, Sienna S; Esplin, Edward D ED; Garcia, Sarah S; Haverfield, Eden V EV; Morales, Ana A; Nussbaum, Robert L RL; Rojahn, Susan S; Vatta, Matteo M; Rader, Daniel J DJ
Publication Date: 2021-08-01

Variant appearance in text: LDLR: 1567G>A; Val523Met
PubMed Link: 34037665
Variant Present in the following documents:
  • jamacardiol-e211301-s001.pdf
View BVdb publication page



Patients With LDLR and PCSK9 Gene Variants Experienced Higher Incidence of Cardiovascular Outcomes in Heterozygous Familial Hypercholesterolemia.

Journal Of The American Heart Association
Doi, Takahito T; Hori, Mika M; Harada-Shiba, Mariko M; Kataoka, Yu Y; Onozuka, Daisuke D; Nishimura, Kunihiro K; Nishikawa, Ryo R; Tsuda, Kosuke K; Ogura, Masatsune M; Son, Cheol C; Miyamoto, Yoshihiro Y; Noguchi, Teruo T; Shimokawa, Hiroaki H; Yasuda, Satoshi S
Publication Date: 2021-02-16

Variant appearance in text: LDLR: 1567G>A; Val523Met; rs28942080
PubMed Link: 33533259
Variant Present in the following documents:
  • JAH3-10-e018263.pdf
  • JAH3-10-e018263-s001.pdf
View BVdb publication page



Genetics of Familial Hypercholesterolemia: New Insights.

Frontiers In Genetics
Vrablik, Michal M; Tichý, Lukas L; Freiberger, Tomas T; Blaha, Vladimir V; Satny, Martin M; Hubacek, Jaroslav A JA
Publication Date: 2020

Variant appearance in text: LDLR: 1567G>A; Val523Met
PubMed Link: 33133164
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome sequencing and characterization of 49,960 individuals in the UK Biobank.

Nature
Van Hout, Cristopher V CV; Tachmazidou, Ioanna I; Backman, Joshua D JD; Hoffman, Joshua D JD; Liu, Daren D; Pandey, Ashutosh K AK; Gonzaga-Jauregui, Claudia C; Khalid, Shareef S; Ye, Bin B; Banerjee, Nilanjana N; Li, Alexander H AH; O'Dushlaine, Colm C; Marcketta, Anthony A; Staples, Jeffrey J; Schurmann, Claudia C; Hawes, Alicia A; Maxwell, Evan E; Barnard, Leland L; Lopez, Alexander A; Penn, John J; Habegger, Lukas L; Blumenfeld, Andrew L AL; Bai, Xiaodong X; O'Keeffe, Sean S; Yadav, Ashish A; Praveen, Kavita K; Jones, Marcus M; Salerno, William J WJ; Chung, Wendy K WK; Surakka, Ida I; Willer, Cristen J CJ; Hveem, Kristian K; Leader, Joseph B JB; Carey, David J DJ; Ledbetter, David H DH; , ; Cardon, Lon L; Yancopoulos, George D GD; Economides, Aris A; Coppola, Giovanni G; Shuldiner, Alan R AR; Balasubramanian, Suganthi S; Cantor, Michael M; , ; Nelson, Matthew R MR; Whittaker, John J; Reid, Jeffrey G JG; Marchini, Jonathan J; Overton, John D JD; Scott, Robert A RA; Abecasis, Gonçalo R GR; Yerges-Armstrong, Laura L; Baras, Aris A
Publication Date: 2020-10

Variant appearance in text: LDLR: 1567G>A; Val523Met
PubMed Link: 33087929
Variant Present in the following documents:
  • 41586_2020_2853_MOESM11_ESM.xlsx, sheet 1
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: rs28942080
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: V523M
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Targeted Genetic Analysis in a Chinese Cohort of 208 Patients Related to Familial Hypercholesterolemia.

Journal Of Atherosclerosis And Thrombosis
Wang, Hao H; Yang, Hang H; Liu, Zhaohui Z; Cui, Kai K; Zhang, Yinhui Y; Zhang, Yujing Y; Zhao, Kun K; Yin, Kunlun K; Li, Wenke W; Zhou, Zhou Z
Publication Date: 2020-12-01

Variant appearance in text: LDLR: 1567G>A; Val523Met
PubMed Link: 32759540
Variant Present in the following documents:
  • Main text
  • jat-27-1288.pdf
View BVdb publication page



The benign c.344G > A: p.(Arg115His) variant in the LDLR gene interpreted from a pedigree-based genetic analysis of familial hypercholesterolemia.

Lipids In Health And Disease
Hori, Mika M; Takahashi, Atsushi A; Son, Cheol C; Ogura, Masatsune M; Harada-Shiba, Mariko M
Publication Date: 2020-04-06

Variant appearance in text: LDLR: Val523Met
PubMed Link: 32252761
Variant Present in the following documents:
  • Main text
  • 12944_2020_Article_1252.pdf
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: 1567G>A; Val523Met
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



A Real-World Experience of Clinical, Biochemical and Genetic Assessment of Patients with Homozygous Familial Hypercholesterolemia.

Journal Of Clinical Medicine
Di Taranto, Maria Donata MD; Giacobbe, Carola C; Buonaiuto, Alessio A; Calcaterra, Ilenia I; Palma, Daniela D; Maione, Giovanna G; Iannuzzo, Gabriella G; Di Minno, Matteo Nicola Dario MND; Rubba, Paolo P; Fortunato, Giuliana G
Publication Date: 2020-01-14

Variant appearance in text: LDLR: 1567G>A; Val523Met
PubMed Link: 31947532
Variant Present in the following documents:
  • Main text
  • jcm-09-00219.pdf
View BVdb publication page



Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10

Variant appearance in text: LDLR: 1567G>A; Val523Met; rs28942080
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
  • pgen.1008409.s003.xlsx, sheet 1
View BVdb publication page



REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Publication Date: 2019-09-04

Variant appearance in text: LDLR: 1567G>A; V523M
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28

Variant appearance in text: LDLR: V523M
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 38
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: 1567G>A; Val523Met
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: 1567G>A; Val523Met
PubMed Link: 29874871
Variant Present in the following documents:
  • Main text
View BVdb publication page



Large-scale deletions of the ABCA1 gene in patients with hypoalphalipoproteinemia.

Journal Of Lipid Research
Dron, Jacqueline S JS; Wang, Jian J; Berberich, Amanda J AJ; Iacocca, Michael A MA; Cao, Henian H; Yang, Ping P; Knoll, Joan J; Tremblay, Karine K; Brisson, Diane D; Netzer, Christian C; Gouni-Berthold, Ioanna I; Gaudet, Daniel D; Hegele, Robert A RA
Publication Date: 2018-08

Variant appearance in text: LDLR: V523M
PubMed Link: 29866657
Variant Present in the following documents:
  • Main text
  • jlrp086280.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: 1567G>A; Val523Met
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.

Metabolism: Clinical And Experimental
Sharifi, Mahtab M; Walus-Miarka, Małgorzata M; Idzior-Waluś, Barbara B; Malecki, Maciej T MT; Sanak, Marek M; Whittall, Ros R; Li, Ka Wah KW; Futema, Marta M; Humphries, Steve E SE
Publication Date: 2016-03

Variant appearance in text: LDLR: 1567G>A; Val523Met
PubMed Link: 26892515
Variant Present in the following documents:
  • main.pdf
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: LDLR: V523M
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: V523M
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: V523M
PubMed Link: 25647241
Variant Present in the following documents:
  • Main text
  • pgen.1004855.s019.xlsx, sheet 1
  • pgen.1004855.pdf
View BVdb publication page



An improved method on stimulated T-lymphocytes to functionally characterize novel and known LDLR mutations.

Journal Of Lipid Research
Romano, Maria M; Di Taranto, Maria Donata MD; Mirabelli, Peppino P; D'Agostino, Maria Nicoletta MN; Iannuzzi, Arcangelo A; Marotta, Gennaro G; Gentile, Marco M; Raia, Maddalena M; Di Noto, Rosa R; Del Vecchio, Luigi L; Rubba, Paolo P; Fortunato, Giuliana G
Publication Date: 2011-11

Variant appearance in text: LDLR: 1567G>A; Val523Met
PubMed Link: 21865347
Variant Present in the following documents:
  • Main text
View BVdb publication page