APP c.129G>A ;(p.M43I)

Variant ID: 21-27484392-C-T

NM_000484.3(APP):c.129G>A;(p.M43I)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

The systemic amyloid precursor transthyretin (TTR) behaves as a neuronal stress protein regulated by HSF1 in SH-SY5Y human neuroblastoma cells and APP23 Alzheimer's disease model mice.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Wang, Xin X; Cattaneo, Francesca F; Ryno, Lisa L; Hulleman, John J; Reixach, Natàlia N; Buxbaum, Joel N JN
Publication Date: 2014-05-21

Variant appearance in text: APP: M43I
PubMed Link: 24849358
Variant Present in the following documents:
  • Main text
View BVdb publication page