Variant ID: 1-55521788-G-A

NM_174936.3(PCSK9):c.922G>A;(p.Gly308Arg)

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:

Self-association of human PCSK9 correlates with its LDLR-degrading activity.

Biochemistry
D Fan, PG Yancey, S Qiu, L Ding, EJ Weeber, MF Linton, S Fazio
Publication Date: 2008-02-12

Variant appearance in text: PCSK9: G308R
PubMed Link: 18197702
Variant Present in the following documents:
  • Main text
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.922G>A p.Gly308Arg missense_variant 6/12 -
ENST00000490692.1 n.1743G>A - non_coding_transcript_exon_variant 3/8 -
ENST00000543384.1 c.322G>A p.Gly108Arg missense_variant 4/10 -
NM_174936.4 c.922G>A p.Gly308Arg missense_variant 6/12 -
NR_110451.1 n.581G>A - non_coding_transcript_exon_variant 4/10 -