APP c.415G>T ;(p.E139*)

Variant ID: 21-27425605-C-A

NM_000484.3(APP):c.415G>T;(p.E139*)

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:

Tissue Inhibitor of Metalloproteases 3 (TIMP-3): In Vivo Analysis Underpins Its Role as a Master Regulator of Ectodomain Shedding.

Membranes
Spanò, Donatella Pia DP; Scilabra, Simone Dario SD
Publication Date: 2022-02-11

Variant appearance in text: APP: E139X
PubMed Link: 35207132
Variant Present in the following documents:
  • Main text
  • membranes-12-00211.pdf
View BVdb publication page