LDLR c.516C>A ;(p.D172E)

Variant ID: 19-11216098-C-A

NM_000527.4(LDLR):c.516C>A;(p.D172E)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Identification of amino acid residues in the ligand binding repeats of LDL receptor important for PCSK9 binding.

Journal Of Lipid Research
Deng, Shi-Jun SJ; Alabi, Adekunle A; Gu, Hong-Mei HM; Adijiang, Ayinuer A; Qin, Shucun S; Zhang, Da-Wei DW
Publication Date: 2019-03

Variant appearance in text: LDLR: D172E
PubMed Link: 30617148
Variant Present in the following documents:
  • Main text
  • jlrM089193.pdf
View BVdb publication page



Mutation detection in Chinese patients with familial hypercholesterolemia.

Springerplus
Du, Ran R; Fan, Liang-Liang LL; Lin, Min-Jie MJ; He, Zhi-Jian ZJ; Huang, Hao H; Chen, Ya-Qin YQ; Li, Jing-Jing JJ; Xia, Kun K; Zhao, Shui-Ping SP; Xiang, Rong R
Publication Date: 2016

Variant appearance in text: LDLR: 516C>A; D172E
PubMed Link: 28028493
Variant Present in the following documents:
  • Main text
  • 40064_2016_Article_3763.pdf
View BVdb publication page