LDLR c.2054del ;(p.P685Rfs*24)

Variant ID: 19-11231108-GC-G

NM_000527.4(LDLR):c.2054del;(p.P685Rfs*24)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Small extracellular vesicles containing LDLRQ722* protein reconstructed the lipid metabolism via heparan sulphate proteoglycans and clathrin-mediated endocytosis.

Clinical And Translational Medicine
Zhou, Yingchao Y; Xie, Qiang Q; Pan, Silin S; Wu, Jianfei J; Wang, Xiangyi X; Cao, Zhubing Z; Wang, Mengru M; Zha, Lingfeng L; Zhou, Mengchen M; Li, Qianqian Q; Wang, Qing Q; Cheng, Xiang X; Wu, Gang G; Tu, Xin X
Publication Date: 2022-03

Variant appearance in text: LDLR: 2054delC; Pro685Argfs*24
PubMed Link: 35343078
Variant Present in the following documents:
  • CTM2-12-e773-s001.pdf
View BVdb publication page



The panorama of familial hypercholesterolemia in Latin America: a systematic review.

Journal Of Lipid Research
Mehta, Roopa R; Zubirán, Rafael R; Martagón, Alexandro J AJ; Vazquez-Cárdenas, Alejandra A; Segura-Kato, Yayoi Y; Tusié-Luna, María Teresa MT; Aguilar-Salinas, Carlos A CA
Publication Date: 2016-12

Variant appearance in text: LDLR: 2051delC
PubMed Link: 27777316
Variant Present in the following documents:
  • Main text
View BVdb publication page