COG2 c.1420A>G ;(p.I474V)

Variant ID: 1-230822720-A-G

NM_007357.2(COG2):c.1420A>G;(p.I474V)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Is a PCSK9 Inhibitor Right for Your Patient? A Review of Treatment Data for Individualized Therapy.

International Journal Of Environmental Research And Public Health
Beltran, Roman A RA; Zemeir, Kyle J KJ; Kimberling, Chase R CR; Kneer, Mary S MS; Mifflin, Michelle D MD; Broderick, Tom L TL
Publication Date: 2022-12-16

Variant appearance in text: LDLC: I474V
PubMed Link: 36554779
Variant Present in the following documents:
  • ijerph-19-16899.pdf
View BVdb publication page



Genetic Spectrum of Familial Hypercholesterolaemia in the Malaysian Community: Identification of Pathogenic Gene Variants Using Targeted Next-Generation Sequencing.

International Journal Of Molecular Sciences
Razman, Aimi Zafira AZ; Chua, Yung-An YA; Mohd Kasim, Noor Alicezah NA; Al-Khateeb, Alyaa A; Sheikh Abdul Kadir, Siti Hamimah SH; Jusoh, Siti Azma SA; Nawawi, Hapizah H; ,
Publication Date: 2022-11-29

Variant appearance in text: LDLC: I474V
PubMed Link: 36499307
Variant Present in the following documents:
  • ijms-23-14971.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: LDLC: I474V
PubMed Link: 34356856
Variant Present in the following documents:
  • Main text
  • biomedicines-09-00793.pdf
View BVdb publication page



PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.

Frontiers In Genetics
Guo, Qianyun Q; Feng, Xunxun X; Zhou, Yujie Y
Publication Date: 2020

Variant appearance in text: LDLC: I474V
PubMed Link: 33173529
Variant Present in the following documents:
  • fgene-11-01020.pdf
View BVdb publication page



PCSK9 Protein and rs562556 Polymorphism Are Associated With Arterial Plaques in Healthy Middle-Aged Population: The STANISLAS Cohort.

Journal Of The American Heart Association
Ferreira, João Pedro JP; Xhaard, Constance C; Lamiral, Zohra Z; Borges-Canha, Marta M; Neves, João Sérgio JS; Dandine-Roulland, Claire C; LeFloch, Edith E; Deleuze, Jean-François JF; Bacq-Daian, Delphine D; Bozec, Erwan E; Girerd, Nicolas N; Boivin, Jean-Marc JM; Zannad, Faiez F; Rossignol, Patrick P
Publication Date: 2020-04-07

Variant appearance in text: LDLC: I474V
PubMed Link: 32208829
Variant Present in the following documents:
  • JAH3-9-e014758.pdf
View BVdb publication page



Differential effects of PCSK9 loss of function variants on serum lipid and PCSK9 levels in Caucasian and African Canadian populations.

Lipids In Health And Disease
Mayne, Janice J; Ooi, Teik Chye TC; Raymond, Angela A; Cousins, Marion M; Bernier, Lise L; Dewpura, Thilina T; Sirois, Francine F; Mbikay, Majambu M; Davignon, Jean J; Chrétien, Michel M
Publication Date: 2013-05-10

Variant appearance in text: LDLC: I474V
PubMed Link: 23663650
Variant Present in the following documents:
  • Main text
  • 1476-511X-12-70.pdf
View BVdb publication page



Mutation in the PCSK9 Gene in Omani Arab Subjects with Autosomal Dominant Hypercholesterolemia and its Effect on PCSK9 Protein Structure.

Oman Medical Journal
Al-Waili, Khalid K; Al-Zidi, Ward Al-Muna WA; Al-Abri, Abdul Rahim AR; Al-Rasadi, Khalid K; Al-Sabti, Hilal Ali HA; Shah, Karna K; Al-Futaisi, Abdullah A; Al-Zakwani, Ibrahim I; Banerjee, Yajnavalka Y
Publication Date: 2013-01

Variant appearance in text: LDLC: Ile474Val
PubMed Link: 23386946
Variant Present in the following documents:
  • Main text
View BVdb publication page