Variant ID: 1-55505667-G-A


This variant was identified in 1 publication


Escins Isolated from Aesculus chinensis Bge. Promote the Autophagic Degradation of Mutant Huntingtin and Inhibit its Induced Apoptosis in HT22 cells.

Frontiers In Pharmacology
Y Sun, X Jiang, R Pan, X Zhou, D Qin, R Xiong, Y Wang, W Qiu, A Wu, J Wu
Publication Date: 2020

Variant appearance in text: PCSK9: A53T
PubMed Link: 32158393
PubMed Central Link
Variant Present in the following documents:
  • fphar-11-00116.pdf
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.157G>A p.Ala53Thr missense_variant 1/12 -
ENST00000452118.2 c.157G>A p.Ala53Thr missense_variant 1/6 -
NM_174936.4 c.157G>A p.Ala53Thr missense_variant 1/12 -
- - TF_binding_site_variant - -