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Variant ID: 1-55524304-G-A
NM_174936.3(
PCSK9
):c.1487G>A;(p.R496Q)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: 2021-12-04
Variant appearance in text: PCSK9: 1487G>A
PubMed Link:
34875256
Variant Present in the following documents:
main.pdf
View BVdb publication page
PCSK9: A Multi-Faceted Protein That Is Involved in Cardiovascular Biology.
Biomedicines
Sundararaman, Sai Sahana SS; Döring, Yvonne Y; van der Vorst, Emiel P C EPC
Publication Date: 2021-07-08
Variant appearance in text: PCSK9: R496Q
PubMed Link:
34356856
Variant Present in the following documents:
Main text
biomedicines-09-00793.pdf
View BVdb publication page
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: 1487G>A; Arg496Gln; rs139669564
PubMed Link:
33418990
Variant Present in the following documents:
Main text
genes-12-00066.pdf
View BVdb publication page