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PSEN1 c.389T>C ;(p.L130P)
Variant ID: 14-73640324-T-C
NM_000021.3(
PSEN1
):c.389T>C;(p.L130P)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015
Variant appearance in text: S182: L130P
PubMed Link:
26659599
Variant Present in the following documents:
pone.0144692.s002.xlsx, sheet 1
View BVdb publication page
Cooperative roles of hydrophilic loop 1 and the C-terminus of presenilin 1 in the substrate-gating mechanism of γ-secretase.
The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Takagi-Niidome, Shizuka S; Sasaki, Tomoki T; Osawa, Satoko S; Sato, Takeshi T; Morishima, Kanan K; Cai, Tetsuo T; Iwatsubo, Takeshi T; Tomita, Taisuke T
Publication Date: 2015-02-11
Variant appearance in text: PS1: L130P
PubMed Link:
25673856
Variant Present in the following documents:
Main text
View BVdb publication page