PSEN1 c.1_2delinsGA ;(p.M1?)

Variant ID: 14-73614728-AT-GA

NM_000021.3(PSEN1):c.1_2delinsGA;(p.M1?)

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:

Protein Predictive Modeling and Simulation of Mutations of Presenilin-1 Familial Alzheimer's Disease on the Orthosteric Site.

Frontiers In Molecular Biosciences
Soto-Ospina, Alejandro A; Araque Marín, Pedronel P; Bedoya, Gabriel G; Sepulveda-Falla, Diego D; Villegas Lanau, Andrés A
Publication Date: 2021

Variant appearance in text: PS1: Met1Glu
PubMed Link: 34150846
Variant Present in the following documents:
  • fmolb-08-649990.pdf
View BVdb publication page