Variant ID: 1-55518419-G-C

NM_174936.3(PCSK9):c.754G>C;(p.Val252Leu)

This variant was identified in 1 publication



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: rs149139428
PMID: 30779729
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.754G>C p.Val252Leu missense_variant 5/12 -
ENST00000452118.2 c.*398G>C - 3_prime_UTR_variant 6/6 -
ENST00000490692.1 n.1575G>C - non_coding_transcript_exon_variant 2/8 -
ENST00000543384.1 c.154G>C p.Val52Leu missense_variant 3/10 -
NM_174936.4 c.754G>C p.Val252Leu missense_variant 5/12 -
NR_110451.1 n.413G>C - non_coding_transcript_exon_variant 3/10 -