LDLR c.2287del ;(p.E763Rfs*2)

Variant ID: 19-11233994-TG-T

NM_000527.4(LDLR):c.2287del;(p.E763Rfs*2)

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: 2286delG; Glu763Argfs*2
PubMed Link: 35343078
Variant Present in the following documents:
  • CTM2-12-e773-s001.pdf
View BVdb publication page



Shortcomings on genetic testing of Familial hypercholesterolemia (FH) in India: Can we collaborate to establish Indian FH registry?

Indian Heart Journal
Reddy, Lakshmi Lavanya LL; Shah, Swarup A V SAV; Ashavaid, Tester F TF
Publication Date: 2022

Variant appearance in text: LDLR: 2286_2286delG
PubMed Link: 34875256
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page