SI c.733G>A ;(p.V245I)

Variant ID: 3-164783123-C-T

NM_001041.3(SI):c.733G>A;(p.V245I)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.

Journal Of Translational Medicine
Pronicka, Ewa E; Piekutowska-Abramczuk, Dorota D; Ciara, Elżbieta E; Trubicka, Joanna J; Rokicki, Dariusz D; Karkucińska-Więckowska, Agnieszka A; Pajdowska, Magdalena M; Jurkiewicz, Elżbieta E; Halat, Paulina P; Kosińska, Joanna J; Pollak, Agnieszka A; Rydzanicz, Małgorzata M; Stawinski, Piotr P; Pronicki, Maciej M; Krajewska-Walasek, Małgorzata M; Płoski, Rafał R
Publication Date: 2016-06-12

Variant appearance in text: SI: 733G>A; Val245Met
PubMed Link: 27290639
Variant Present in the following documents:
  • 12967_2016_Article_930.pdf
View BVdb publication page



In vitro and in vivo studies of the antiparasitic activity of sterol 14α-demethylase (CYP51) inhibitor VNI against drug-resistant strains of Trypanosoma cruzi.

Antimicrobial Agents And Chemotherapy
Soeiro, Maria de Nazaré Correia Mde N; de Souza, Elen Mello EM; da Silva, Cristiane França CF; Batista, Denise da Gama Jaen Dda G; Batista, Marcos Meuser MM; Pavão, Beatriz Philot BP; Araújo, Julianna Siciliano JS; Aiub, Claudia Alessandra Fortes CA; da Silva, Patrícia Bernardino PB; Lionel, Jessica J; Britto, Constança C; Kim, Kwangho K; Sulikowski, Gary G; Hargrove, Tatiana Y TY; Waterman, Michael R MR; Lepesheva, Galina I GI
Publication Date: 2013-09

Variant appearance in text: SI: V245I
PubMed Link: 23774435
Variant Present in the following documents:
  • Main text
View BVdb publication page