LDLR c.599T>G ;(p.F200C)

Variant ID: 19-11216181-T-G

NM_000527.4(LDLR):c.599T>G;(p.F200C)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Genotypic and phenotypic features of dyslipidemia in a sample of pediatric patients in China.

Bmc Pediatrics
Zhang, Qianwen Q; Chang, Guoying G; Tang, Yijun Y; Gu, Shili S; Ding, Yu Y; Chen, Yao Y; Wang, Yirou Y; Liu, Shijian S; Wang, Jian J; Wang, Xiumin X
Publication Date: 2023-03-29

Variant appearance in text: LDLR: Phe200Cys
PubMed Link: 36991406
Variant Present in the following documents:
  • Main text
  • 12887_2023_Article_3952.pdf
View BVdb publication page



The cholesterol transport protein GRAMD1C regulates autophagy initiation and mitochondrial bioenergetics.

Nature Communications
Ng, Matthew Yoke Wui MYW; Charsou, Chara C; Lapao, Ana A; Singh, Sakshi S; Trachsel-Moncho, Laura L; Schultz, Sebastian W SW; Nakken, Sigve S; Munson, Michael J MJ; Simonsen, Anne A
Publication Date: 2022-10-21

Variant appearance in text: LDLR: F200C
PubMed Link: 36270994
Variant Present in the following documents:
  • Main text
  • 41467_2022_Article_33933.pdf
View BVdb publication page



Genetic Analysis in a Taiwanese Cohort of 750 Index Patients with Clinically Diagnosed Familial Hypercholesterolemia.

Journal Of Atherosclerosis And Thrombosis
Huang, Chin-Chou CC; Niu, Dau-Ming DM; Charng, Min-Ji MJ
Publication Date: 2022-05-01

Variant appearance in text: LDLR: F200C; rs879254586
PubMed Link: 33994402
Variant Present in the following documents:
  • jat-29-639.pdf
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: 599T>G; Phe200Cys; rs879254586
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



The distribution and characteristics of LDL receptor mutations in China: A systematic review.

Scientific Reports
Jiang, Long L; Sun, Li-Yuan LY; Dai, Yan-Fang YF; Yang, Shi-Wei SW; Zhang, Feng F; Wang, Lu-Ya LY
Publication Date: 2015-11-26

Variant appearance in text: LDLR: 599T>G
PubMed Link: 26608663
Variant Present in the following documents:
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: F200C
PubMed Link: 25794154
Variant Present in the following documents:
  • pcbi.1004147.s001.xlsx, sheet 1
View BVdb publication page