PSEN1 c.340_341delinsTG ;(p.I114C)

Variant ID: 14-73640275-AT-TG

NM_000021.3(PSEN1):c.340_341delinsTG;(p.I114C)

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:

Structure of the catalytic pore of gamma-secretase probed by the accessibility of substituted cysteines.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Sato, Chihiro C; Morohashi, Yuichi Y; Tomita, Taisuke T; Iwatsubo, Takeshi T
Publication Date: 2006-11-15

Variant appearance in text: PS1: I114C
PubMed Link: 17108181
Variant Present in the following documents:
  • Main text
View BVdb publication page