Variant ID: 1-230822720-A-G

NM_007357.2(COG2):c.1420A>G;(p.Ile474Val)

This variant was identified in 2 publications



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

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
J Mayne, TC Ooi, A Raymond, M Cousins, L Bernier, T Dewpura, F Sirois, M Mbikay, J Davignon, M Chrétien
Publication Date: 2013-05-10

Variant appearance in text: LDLC: I474V
PubMed Link: 23663650
Variant Present in the following documents:
  • Main text
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
K Al-Waili, WA Al-Zidi, AR Al-Abri, K Al-Rasadi, HA Al-Sabti, K Shah, A Al-Futaisi, I Al-Zakwani, Y Banerjee
Publication Date: 2013-01

Variant appearance in text: LDLC: I474V
PubMed Link: 23386946
Variant Present in the following documents:
  • Main text
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000366668.3 c.1420A>G p.Ile474Val missense_variant 13/18 -
ENST00000366669.4 c.1420A>G p.Ile474Val missense_variant 13/18 -
ENST00000468893.2 c.*1278A>G - 3_prime_UTR_variant,NMD_transcript_variant 14/19 -
ENST00000482012.1 n.310A>G - non_coding_transcript_exon_variant 3/5 -
ENST00000534989.1 c.1243A>G p.Ile415Val missense_variant 13/18 -
ENST00000535166.1 c.1072A>G p.Ile358Val missense_variant 14/19 -
ENST00000546013.1 c.487A>G p.Ile163Val missense_variant 5/10 -
NM_001145036.2 c.1420A>G p.Ile474Val missense_variant 13/18 -
NM_007357.3 c.1420A>G p.Ile474Val missense_variant 13/18 -