PSEN1 c.1133G>C ;(p.G378A)

Variant ID: 14-73683837-G-C

NM_000021.3(PSEN1):c.1133G>C;(p.G378A)

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:

Aberrant amyloid precursor protein (APP) processing in hereditary forms of Alzheimer disease caused by APP familial Alzheimer disease mutations can be rescued by mutations in the APP GxxxG motif.

The Journal Of Biological Chemistry
Munter, Lisa-Marie LM; Botev, Anne A; Richter, Luise L; Hildebrand, Peter W PW; Althoff, Veit V; Weise, Christoph C; Kaden, Daniela D; Multhaup, Gerd G
Publication Date: 2010-07-09

Variant appearance in text: PS1: G378A
PubMed Link: 20452985
Variant Present in the following documents:
  • Main text
View BVdb publication page