Variant ID: 1-55505652-GAG-TGT

NM_174936.3(PCSK9):c.142_144delinsTGT;(p.Glu48Cys)

This variant was identified in 1 publication




Publications:


Tanshinone IIA Downregulates Lipogenic Gene Expression and Attenuates Lipid Accumulation through the Modulation of LXRα/SREBP1 Pathway in HepG2 Cells.

Biomedicines
WY Gao, PY Chen, HJ Hsu, CY Lin, MJ Wu, JH Yen
Publication Date: 2021-03-23

Variant appearance in text: PCSK9: E48C
PubMed Link: 33806955
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.142_144delinsTGT p.Glu48Cys missense_variant 1/12 -
ENST00000452118.2 c.142_144delinsTGT p.Glu48Cys missense_variant 1/6 -
NM_174936.4 c.142_144delinsTGT p.Glu48Cys missense_variant 1/12 -