APP c.32_33delinsAG ;(p.A11E)

Variant ID: 21-27542906-GG-CT

NM_000484.3(APP):c.32_33delinsAG;(p.A11E)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Alzheimer's disease-causing presenilin-1 mutations have deleterious effects on mitochondrial function.

Theranostics
Han, Jihoon J; Park, Heejin H; Maharana, Chinmoyee C; Gwon, A-Ryeong AR; Park, Jinsu J; Baek, Seung Hyun SH; Bae, Han-Gyu HG; Cho, Yoonsuk Y; Kim, Hark Kyun HK; Sul, Jae Hoon JH; Lee, Jeongmi J; Kim, Eunae E; Kim, Junsik J; Cho, Yongeun Y; Park, Sunyoung S; Palomera, Leon F LF; Arumugam, Thiruma V TV; Mattson, Mark P MP; Jo, Dong-Gyu DG
Publication Date: 2021

Variant appearance in text: APP: A11E
PubMed Link: 34522215
Variant Present in the following documents:
  • Main text
View BVdb publication page



Paraoxonase Role in Human Neurodegenerative Diseases.

Antioxidants (Basel, Switzerland)
Reichert, Cadiele Oliana CO; Levy, Debora D; Bydlowski, Sergio P SP
Publication Date: 2020-12-24

Variant appearance in text: APP: A11E
PubMed Link: 33374313
Variant Present in the following documents:
  • Main text
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: APP: A11E
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-5.xlsx, sheet 1
View BVdb publication page