PSEN1 c.1166A>G ;(p.Y389C)

Variant ID: 14-73683870-A-G

NM_000021.3(PSEN1):c.1166A>G;(p.Y389C)

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:

Mutagenesis mapping of the presenilin 1 calcium leak conductance pore.

The Journal Of Biological Chemistry
Nelson, Omar O; Supnet, Charlene C; Tolia, Alexandra A; Horré, Katrien K; De Strooper, Bart B; Bezprozvanny, Ilya I
Publication Date: 2011-06-24

Variant appearance in text: PS1: Y389C
PubMed Link: 21531718
Variant Present in the following documents:
  • Main text
View BVdb publication page