Variant ID: 1-55518064-G-C

NM_174936.3(PCSK9):c.637G>C;(p.Gly213Arg)

This variant was identified in 1 publication



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

Publications:

Association of Exome Sequences With Cardiovascular Traits Among Blacks in the Jackson Heart Study.

Circulation. Cardiovascular Genetics
GM Peloso, LA Lange, TV Varga, DA Nickerson, JD Smith, ME Griswold, S Musani, LM Polfus, H Mei, S Gabriel, RC Quarells, D Altshuler, E Boerwinkle, MJ Daly, B Neale, A Correa, AP Reiner, JG Wilson, S Kathiresan
Publication Date: 2016-08

Variant appearance in text: PCSK9: G213R
PubMed Link: 27422940
Variant Present in the following documents:
  • NIHMS803853-supplement-001410_-_Supplemental_Material.pdf
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.637G>C p.Gly213Arg missense_variant 4/12 -
ENST00000452118.2 c.*281G>C - 3_prime_UTR_variant 5/6 -
ENST00000490692.1 n.1458G>C - non_coding_transcript_exon_variant 1/8 -
ENST00000543384.1 c.37G>C p.Gly13Arg missense_variant 2/10 -
NM_174936.4 c.637G>C p.Gly213Arg missense_variant 4/12 -
NR_110451.1 n.296G>C - non_coding_transcript_exon_variant 2/10 -