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PSEN1 c.1192_1194delinsTGT ;(p.A398C)
Variant ID: 14-73683896-GCA-TGT
NM_000021.3(
PSEN1
):c.1192_1194delinsTGT;(p.A398C)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
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dbSNP
Publications:
Contribution of the γ-secretase subunits to the formation of catalytic pore of presenilin 1 protein.
The Journal Of Biological Chemistry
Takeo, Koji K; Watanabe, Naoto N; Tomita, Taisuke T; Iwatsubo, Takeshi T
Publication Date: 2012-07-27
Variant appearance in text: PS1: A398C
PubMed Link:
22689582
Variant Present in the following documents:
Main text
View BVdb publication page
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: A398C
PubMed Link:
17108181
Variant Present in the following documents:
Main text
View BVdb publication page