PSEN1 c.40_42delinsTGT ;(p.A14C)

Variant ID: 14-73614767-GCA-TGT

NM_000021.3(PSEN1):c.40_42delinsTGT;(p.A14C)

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:

Presenilins regulate the cellular activity of ryanodine receptors differentially through isotype-specific N-terminal cysteines.

Experimental Neurology
Payne, Andrew J AJ; Gerdes, Bryan C BC; Naumchuk, Yuliya Y; McCalley, Audrey E AE; Kaja, Simon S; Koulen, Peter P
Publication Date: 2013-12

Variant appearance in text: PS1: A14C
PubMed Link: 24029002
Variant Present in the following documents:
  • Main text
View BVdb publication page