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PSEN1 c.403_404delinsTG ;(p.N135C)
Variant ID: 14-73640338-AA-TG
NM_000021.3(
PSEN1
):c.403_404delinsTG;(p.N135C)
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:
Allosteric regulation of γ-secretase activity by a phenylimidazole-type γ-secretase modulator.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Takeo, Koji K; Tanimura, Shun S; Shinoda, Takehiro T; Osawa, Satoko S; Zahariev, Ivan Krasmirov IK; Takegami, Naoki N; Ishizuka-Katsura, Yoshiko Y; Shinya, Naoko N; Takagi-Niidome, Shizuka S; Tominaga, Aya A; Ohsawa, Noboru N; Kimura-Someya, Tomomi T; Shirouzu, Mikako M; Yokoshima, Satoshi S; Yokoyama, Shigeyuki S; Fukuyama, Tohru T; Tomita, Taisuke T; Iwatsubo, Takeshi T
Publication Date: 2014-07-22
Variant appearance in text: PS1: N135C
PubMed Link:
25009180
Variant Present in the following documents:
Main text
View BVdb publication page