APP c.1213_1215delinsCAT ;(p.R405H)

Variant ID: 21-27354666-TCT-ATG

NM_000484.3(APP):c.1213_1215delinsCAT;(p.R405H)

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:

Targeted stabilization of Munc18-1 function via pharmacological chaperones.

Embo Molecular Medicine
Abramov, Debra D; Guiberson, Noah Guy Lewis NGL; Daab, Andrew A; Na, Yoonmi Y; Petsko, Gregory A GA; Sharma, Manu M; Burré, Jacqueline J
Publication Date: 2021-01-11

Variant appearance in text: APP: R405H
PubMed Link: 33332765
Variant Present in the following documents:
  • Main text
  • EMMM-13-e12354.pdf
View BVdb publication page