Variant ID: 1-55521861-A-G

NM_174936.3(PCSK9):c.995A>G;(p.Glu332Gly)

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:

Characterization of the role of EGF-A of low density lipoprotein receptor in PCSK9 binding.

Journal Of Lipid Research
HM Gu, A Adijiang, M Mah, DW Zhang
Publication Date: 2013-12

Variant appearance in text: PCSK9: E332G
PubMed Link: 24103783
Variant Present in the following documents:
  • Main text
View BVdb publication page


Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.995A>G p.Glu332Gly missense_variant,splice_region_variant 6/12 -
ENST00000490692.1 n.1816A>G - splice_region_variant,non_coding_transcript_exon_variant 3/8 -
ENST00000543384.1 c.395A>G p.Glu132Gly missense_variant,splice_region_variant 4/10 -
NM_174936.4 c.995A>G p.Glu332Gly missense_variant,splice_region_variant 6/12 -
NR_110451.1 n.654A>G - splice_region_variant,non_coding_transcript_exon_variant 4/10 -