PSEN1 c.580_582delinsCAA ;(p.D194Q)

Variant ID: 14-73659383-GAC-CAA

NM_000021.3(PSEN1):c.580_582delinsCAA;(p.D194Q)

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:

Polar transmembrane-based amino acids in presenilin 1 are involved in endoplasmic reticulum localization, Pen2 protein binding, and γ-secretase complex stabilization.

The Journal Of Biological Chemistry
Fassler, Matthias M; Li, Xiaolin X; Kaether, Christoph C
Publication Date: 2011-11-04

Variant appearance in text: PS1: D194Q
PubMed Link: 21914807
Variant Present in the following documents:
  • Main text
View BVdb publication page