Variant ID: 1-55525315-C-A

NM_174936.3(PCSK9):c.1660C>A;(p.Gln554Lys)

This variant was identified in 3 publications



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

Publications:

Identifying individual risk rare variants using protein structure guided local tests (POINT).

Plos Computational Biology
R Marceau West, W Lu, DM Rotroff, MA Kuenemann, SM Chang, MC Wu, MJ Wagner, JB Buse, AA Motsinger-Reif, D Fourches, JY Tzeng
Publication Date: 2019-02

Variant appearance in text: N/A
PMID: 30779729
View BVdb publication page


Association and differences in genetic polymorphisms in PCSK9 gene in subjects with lacunar infarction in the Han and Uygur populations of Xinjiang Uygur Autonomous Region of China.

Neural Regeneration Research
DF Han, JH Ma, CG Hao, Tuerhong Tuerxun, L Du, XN Zhang
Publication Date: 2017-08

Variant appearance in text: N/A
PMID: 28966647
View BVdb publication page


Correlation of PCSK9 gene polymorphism with cerebral ischemic stroke in Xinjiang Han and Uygur populations.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research
D Han, J Ma, X Zhang, J Cai, J Li, T Tuerxun, C Hao, L Du, J Lei
Publication Date: 2014-09-30

Variant appearance in text: rs149311926
PMID: 25266949
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1660C>A p.Gln554Lys missense_variant 10/12 -
ENST00000490692.1 n.2227+995C>A - intron_variant,non_coding_transcript_variant - 6/7
ENST00000543384.1 c.*207C>A - 3_prime_UTR_variant 8/10 -
NM_174936.4 c.1660C>A p.Gln554Lys missense_variant 10/12 -
NR_110451.1 n.1267C>A - non_coding_transcript_exon_variant 8/10 -