PSEN1 c.280_282delinsTGT ;(p.V94C)

Variant ID: 14-73637697-GTG-TGT

NM_000021.3(PSEN1):c.280_282delinsTGT;(p.V94C)

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:

Participation of transmembrane domain 1 of presenilin 1 in the catalytic pore structure of the γ-secretase.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Takagi, Shizuka S; Tominaga, Aya A; Sato, Chihiro C; Tomita, Taisuke T; Iwatsubo, Takeshi T
Publication Date: 2010-11-24

Variant appearance in text: PS1: V94C
PubMed Link: 21106832
Variant Present in the following documents:
  • Main text
View BVdb publication page