PSEN1 c.577_579delinsTGT ;(p.V193C)

Variant ID: 14-73659380-GTG-TGT

NM_000021.3(PSEN1):c.577_579delinsTGT;(p.V193C)

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 Changes in Transmembrane Domain 4 of Presenilin 1 Are Associated with Altered Amyloid-β 42 Production.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Tominaga, Aya A; Cai, Tetsuo T; Takagi-Niidome, Shizuka S; Iwatsubo, Takeshi T; Tomita, Taisuke T
Publication Date: 2016-01-27

Variant appearance in text: PS1: V193C
PubMed Link: 26818522
Variant Present in the following documents:
  • Main text
View BVdb publication page