Variant ID: 1-55524192-A-G

NM_174936.3(PCSK9):c.1375A>G;(p.Thr459Ala)

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:

Role of the C-terminal domain of PCSK9 in degradation of the LDL receptors.

Journal Of Lipid Research
ØL Holla, J Cameron, K Tveten, TB Strøm, KE Berge, JK Laerdahl, TP Leren
Publication Date: 2011-10

Variant appearance in text: PCSK9: T459A
PubMed Link: 21771976
Variant Present in the following documents:
  • Main text
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1375A>G p.Thr459Ala missense_variant 9/12 -
ENST00000490692.1 n.2099A>G - non_coding_transcript_exon_variant 6/8 -
ENST00000543384.1 c.723A>G p.Gly241= synonymous_variant 7/10 -
NM_174936.4 c.1375A>G p.Thr459Ala missense_variant 9/12 -
NR_110451.1 n.982A>G - non_coding_transcript_exon_variant 7/10 -