PSEN1 c.224_225delinsGT ;(p.L75C)

Variant ID: 14-73637641-TG-GT

NM_000021.3(PSEN1):c.224_225delinsGT;(p.L75C)

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:

Activation of γ-Secretase Trimming Activity by Topological Changes of Transmembrane Domain 1 of Presenilin 1.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Cai, Tetsuo T; Yonaga, Masahiro M; Tomita, Taisuke T
Publication Date: 2017-12-13

Variant appearance in text: PS1: L75C
PubMed Link: 29118109
Variant Present in the following documents:
  • Main text
View BVdb publication page