PSEN1 c.359A>C ;(p.E120A)

Variant ID: 14-73640294-A-C

NM_000021.3(PSEN1):c.359A>C;(p.E120A)

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:

Hydrophilic loop 1 of Presenilin-1 and the APP GxxxG transmembrane motif regulate γ-secretase function in generating Alzheimer-causing Aβ peptides.

The Journal Of Biological Chemistry
Liu, Lei L; Lauro, Bianca M BM; Wolfe, Michael S MS; Selkoe, Dennis J DJ
Publication Date: 2021

Variant appearance in text: PS1: E120A
PubMed Link: 33571524
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page