APP c.22C>T ;(p.L8F)

Variant ID: 21-27542917-G-A

NM_000484.3(APP):c.22C>T;(p.L8F)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Encephalomalacia/gliosis, deep venous thrombosis, and cancer in Arg393His antithrombin Hanoi and the potential impact of the β-amyloid precursor protein (APP) on thrombosis and cancer.

Aims Neuroscience
Nguyen, Khue Vu KV
Publication Date: 2022

Variant appearance in text: APP: 22C>T; L8F
PubMed Link: 35860682
Variant Present in the following documents:
  • Main text
  • neurosci-09-02-010.pdf
View BVdb publication page



Potential molecular link between the β-amyloid precursor protein (APP) and hypoxanthine-guanine phosphoribosyltransferase (HGprt) enzyme in Lesch-Nyhan disease and cancer.

Aims Neuroscience
Nguyen, Khue Vu KV
Publication Date: 2021

Variant appearance in text: APP: 22C>T; L8F
PubMed Link: 34877405
Variant Present in the following documents:
  • Main text
  • neurosci-08-04-030.pdf
View BVdb publication page



β-Amyloid precursor protein (APP) and the human diseases.

Aims Neuroscience
Nguyen, Khue Vu KV
Publication Date: 2019

Variant appearance in text: APP: 22C>T; L8F
PubMed Link: 32341983
Variant Present in the following documents:
  • Main text
  • neurosci-06-04-273.pdf
View BVdb publication page



Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients.

Plos One
Guven, Gamze G; Lohmann, Ebba E; Bras, Jose J; Gibbs, J Raphael JR; Gurvit, Hakan H; Bilgic, Basar B; Hanagasi, Hasmet H; Rizzu, Patrizia P; Heutink, Peter P; Emre, Murat M; Erginel-Unaltuna, Nihan N; Just, Walter W; Hardy, John J; Singleton, Andrew A; Guerreiro, Rita R
Publication Date: 2016

Variant appearance in text: APP: 22C>T
PubMed Link: 27632209
Variant Present in the following documents:
  • pone.0162592.pdf
View BVdb publication page