LDLR c.1516G>A ;(p.V506M)

Variant ID: 19-11224368-G-A

NM_000527.4(LDLR):c.1516G>A;(p.V506M)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Single-cell transcriptome analysis identifies a unique tumor cell type producing multiple hormones in ectopic ACTH and CRH secreting pheochromocytoma.

Elife
Zhang, Xuebin X; Lian, Penghu P; Su, Mingming M; Ji, Zhigang Z; Deng, Jianhua J; Zheng, Guoyang G; Wang, Wenda W; Ren, Xinyu X; Jiang, Taijiao T; Zhang, Peng P; Li, Hanzhong H
Publication Date: 2021-12-14

Variant appearance in text: LDLR: 1516G>A; V506M; rs373848925
PubMed Link: 34905486
Variant Present in the following documents:
  • elife-68436-supp4.xlsx, sheet 1
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: V506M
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: LDLR: 1516G>A; Val506Met; rs373848925
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
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: 1516G>A; Val506Met
PubMed Link: 32015373
Variant Present in the following documents:
  • 41598_2020_58734_MOESM1_ESM.pdf
View BVdb publication page



Effects of familial hypercholesterolemia-associated genes on the phenotype of premature myocardial infarction.

Lipids In Health And Disease
Lee, Chongyou C; Cui, Yuxia Y; Song, Junxian J; Li, Sufang S; Zhang, Feng F; Wu, Manyan M; Li, Long L; Hu, Dan D; Chen, Hong H
Publication Date: 2019-04-11

Variant appearance in text: LDLR: 1516G>A
PubMed Link: 30971288
Variant Present in the following documents:
  • Main text
  • 12944_2019_Article_1042.pdf
View BVdb publication page



Findings of a 1303 Korean whole-exome sequencing study.

Experimental & Molecular Medicine
Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ
Publication Date: 2017-07-14

Variant appearance in text: LDLR: V506M
PubMed Link: 28706299
Variant Present in the following documents:
  • emm2017142x4.xls, sheet 1
  • emm2017142x5.xls, sheet 1
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: LDLR: V506M
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
View BVdb publication page



The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: LDLR: 1516G>A; V506M
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: LDLR: V506M
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-5.xlsx, sheet 1
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page