Variant ID: 1-55505610-G-A

NM_174936.3(PCSK9):c.100G>A;(p.E34K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.

Genes
Meshkov, Alexey A; Ershova, Alexandra A; Kiseleva, Anna A; Zotova, Evgenia E; Sotnikova, Evgeniia E; Petukhova, Anna A; Zharikova, Anastasia A; Malyshev, Pavel P; Rozhkova, Tatyana T; Blokhina, Anastasia A; Limonova, Alena A; Ramensky, Vasily V; Divashuk, Mikhail M; Khasanova, Zukhra Z; Bukaeva, Anna A; Kurilova, Olga O; Skirko, Olga O; Pokrovskaya, Maria M; Mikova, Valeriya V; Snigir, Ekaterina E; Akinshina, Alexsandra A; Mitrofanov, Sergey S; Kashtanova, Daria D; Makarov, Valentin V; Kukharchuk, Valeriy V; Boytsov, Sergey S; Yudin, Sergey S; Drapkina, Oxana O
Publication Date: 2021-01-06

Variant appearance in text: PCSK9: 100G>A; Glu34Lys; rs371030381
PubMed Link: 33418990
Variant Present in the following documents:
  • Main text
  • genes-12-00066.pdf
View BVdb publication page



Nuclease-Mediated Gene Therapies for Inherited Metabolic Diseases of the Liver.

The Yale Journal Of Biology And Medicine
Bryson, Taylor E TE; Anglin, Caitlin M CM; Bridges, P Hudson PH; Cottle, Renee N RN
Publication Date: 2017-12

Variant appearance in text: PCSK9: Glu34Lys
PubMed Link: 29259521
Variant Present in the following documents:
  • Main text
View BVdb publication page