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APP c.1995G>T ;(p.E665D)
Variant ID: 21-27269954-C-A
NM_000484.3(
APP
):c.1995G>T;(p.E665D)
This variant was identified in 6 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Molecular characterization of lung squamous cell carcinoma tumors reveals therapeutically relevant alterations.
Oncotarget
Joshi, Asim A; Mishra, Rohit R; Desai, Sanket S; Chandrani, Pratik P; Kore, Hitesh H; Sunder, Roma R; Hait, Supriya S; Iyer, Prajish P; Trivedi, Vaishakhi V; Choughule, Anuradha A; Noronha, Vanita V; Joshi, Amit A; Patil, Vijay V; Menon, Nandini N; Kumar, Rajiv R; Prabhash, Kumar K; Dutt, Amit A
Publication Date: 2021-03-16
Variant appearance in text: APP: E665D
PubMed Link:
33796225
Variant Present in the following documents:
oncotarget-12-578-s005.xlsx, sheet 1
View BVdb publication page
Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2.
Neurobiology Of Disease
Hsu, Simon S; Pimenova, Anna A AA; Hayes, Kimberly K; Villa, Juan A JA; Rosene, Matthew J MJ; Jere, Madhavi M; Goate, Alison M AM; Karch, Celeste M CM
Publication Date: 2020-06
Variant appearance in text: APP: E665D
PubMed Link:
32087291
Variant Present in the following documents:
Main text
nihms-1588025.pdf
NIHMS1588025-supplement-Supplemental_Table.xlsx, sheet 1
NIHMS1588025-supplement-Supplemental_Table.xlsx, sheet 2
View BVdb publication page
Central and Peripheral Metabolic Defects Contribute to the Pathogenesis of Alzheimer's Disease: Targeting Mitochondria for Diagnosis and Prevention.
Antioxidants & Redox Signaling
Peng, Yunhua Y; Gao, Peipei P; Shi, Le L; Chen, Lei L; Liu, Jiankang J; Long, Jiangang J
Publication Date: 2020-06-01
Variant appearance in text: APP: E665D
PubMed Link:
32050773
Variant Present in the following documents:
Main text
View BVdb publication page
Processing of Mutant β-Amyloid Precursor Protein and the Clinicopathological Features of Familial Alzheimer's Disease.
Aging And Disease
Bi, Christopher C; Bi, Stephanie S; Li, Bin B
Publication Date: 2019-04
Variant appearance in text: APP: E665D
PubMed Link:
31011484
Variant Present in the following documents:
Main text
ad-10-2-383.pdf
View BVdb publication page
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: AD1: E665D
PubMed Link:
26659599
Variant Present in the following documents:
pone.0144692.s002.xlsx, sheet 1
View BVdb publication page
Early onset Alzheimer's disease and oxidative stress.
Oxidative Medicine And Cellular Longevity
Meraz-Ríos, Marco Antonio MA; Franco-Bocanegra, Diana D; Toral Rios, Danira D; Campos-Peña, Victoria V
Publication Date: 2014
Variant appearance in text: APP: E665D
PubMed Link:
24669286
Variant Present in the following documents:
Main text
OMCL2014-375968.pdf
View BVdb publication page