SYNJ1 c.3746C>T ;(p.P1249L)

Variant ID: 21-34011387-G-A

NM_203446.3(SYNJ1):c.3746C>T;(p.P1249L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Frequency of Parkinson's Disease Genes and Role of PARK2 in Amyotrophic Lateral Sclerosis: An NGS Study.

Genes
Vacchiano, Veria V; Bartoletti-Stella, Anna A; Rizzo, Giovanni G; Avoni, Patrizia P; Parchi, Piero P; Salvi, Fabrizio F; Liguori, Rocco R; Capellari, Sabina S
Publication Date: 2022-07-22

Variant appearance in text: SYNJ1: 3863C>T; Pro1288Leu
PubMed Link: 35893043
Variant Present in the following documents:
  • genes-13-01306.pdf
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: rs149288077
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
View BVdb publication page