APP c.1031C>T ;(p.A344V)

Variant ID: 21-27372332-G-A

NM_000484.3(APP):c.1031C>T;(p.A344V)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Alzheimer's Disease in the Latino Community: Intersection of Genetics and Social Determinants of Health.

Journal Of Alzheimer'S Disease : Jad
Vega, Irving E IE; Cabrera, Laura Y LY; Wygant, Cassandra M CM; Velez-Ortiz, Daniel D; Counts, Scott E SE
Publication Date: 2017

Variant appearance in text: APP: A344V
PubMed Link: 28527211
Variant Present in the following documents:
  • Main text
View BVdb publication page



Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: APP: A344V
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
View BVdb publication page



Disease-related mutations among Caribbean Hispanics with familial dementia.

Molecular Genetics & Genomic Medicine
Lee, Joseph H JH; Kahn, Amanda A; Cheng, Rong R; Reitz, Christiane C; Vardarajan, Badri B; Lantigua, Rafael R; Medrano, Martin M; Jiménez-Velázquez, Ivonne Z IZ; Williamson, Jennifer J; Nagy, Peter P; Mayeux, Richard R
Publication Date: 2014-09

Variant appearance in text: APP: 1031C>T; Ala344Val
PubMed Link: 25333068
Variant Present in the following documents:
  • Main text
  • mgg30002-0430.pdf
View BVdb publication page