WARS2 c.1045G>A ;(p.V349M)

Variant ID: 1-119575572-C-T

NM_015836.3(WARS2):c.1045G>A;(p.V349M)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


The Expanding Phenotypical Spectrum of WARS2-Related Disorder: Four Novel Cases with a Common Recurrent Variant.

Genes
Pauly, Martje G MG; Korenke, G Christoph GC; Diaw, Sokhna Haissatou SH; Grözinger, Anne A; Cazurro-Gutiérrez, Ana A; Pérez-Dueñas, Belén B; González, Victoria V; Macaya, Alfons A; Serrano Antón, Ana Teresa AT; Peterlin, Borut B; Božović, Ivana Babić IB; Maver, Aleš A; Münchau, Alexander A; Lohmann, Katja K
Publication Date: 2023-03-29

Variant appearance in text: WARS2: 1045G>A
PubMed Link: 37107582
Variant Present in the following documents:
  • genes-14-00822.pdf
View BVdb publication page



The landscape of driver mutations in cutaneous squamous cell carcinoma.

Npj Genomic Medicine
Chang, Darwin D; Shain, A Hunter AH
Publication Date: 2021-07-16

Variant appearance in text: WARS2: V349M
PubMed Link: 34272401
Variant Present in the following documents:
  • 41525_2021_226_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature.

Nature Communications
Inman, Gareth J GJ; Wang, Jun J; Nagano, Ai A; Alexandrov, Ludmil B LB; Purdie, Karin J KJ; Taylor, Richard G RG; Sherwood, Victoria V; Thomson, Jason J; Hogan, Sarah S; Spender, Lindsay C LC; South, Andrew P AP; Stratton, Michael M; Chelala, Claude C; Harwood, Catherine A CA; Proby, Charlotte M CM; Leigh, Irene M IM
Publication Date: 2018-09-10

Variant appearance in text: WARS2: 1045G>A; V349M
PubMed Link: 30202019
Variant Present in the following documents:
  • 41467_2018_6027_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page