PSEN1 c.515_516delinsGT ;(p.L172C)

Variant ID: 14-73653595-TG-GT

NM_000021.3(PSEN1):c.515_516delinsGT;(p.L172C)

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:

Conformational Dynamics of Transmembrane Domain 3 of Presenilin 1 Is Associated with the Trimming Activity of γ-Secretase.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Cai, Tetsuo T; Morishima, Kanan K; Takagi-Niidome, Shizuka S; Tominaga, Aya A; Tomita, Taisuke T
Publication Date: 2019-10-23

Variant appearance in text: PS1: L172C
PubMed Link: 31527118
Variant Present in the following documents:
  • Main text
View BVdb publication page