TG c.1304T>A ;(p.V435D)

Variant ID: 8-133898921-T-A

NM_003235.4(TG):c.1304T>A;(p.V435D)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology
Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G
Publication Date: 2023-04-22

Variant appearance in text: TG: 1304T>A
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



The variant rs77559646 associated with aggressive prostate cancer disrupts ANO7 mRNA splicing and protein expression.

Human Molecular Genetics
Wahlström, Gudrun G; Heron, Samuel S; Knuuttila, Matias M; Kaikkonen, Elina E; Tulonen, Nea N; Metsälä, Olli O; Löf, Christoffer C; Ettala, Otto O; Boström, Peter J PJ; Taimen, Pekka P; Poutanen, Matti M; Schleutker, Johanna J
Publication Date: 2022-06-22

Variant appearance in text: TG: 1304T>A
PubMed Link: 35043958
Variant Present in the following documents:
  • wahlstrom_supplementary_table_s4_15-10-2021_ddac012.xlsx, sheet 1
View BVdb publication page



Multi-omic machine learning predictor of breast cancer therapy response.

Nature
Sammut, Stephen-John SJ; Crispin-Ortuzar, Mireia M; Chin, Suet-Feung SF; Provenzano, Elena E; Bardwell, Helen A HA; Ma, Wenxin W; Cope, Wei W; Dariush, Ali A; Dawson, Sarah-Jane SJ; Abraham, Jean E JE; Dunn, Janet J; Hiller, Louise L; Thomas, Jeremy J; Cameron, David A DA; Bartlett, John M S JMS; Hayward, Larry L; Pharoah, Paul D PD; Markowetz, Florian F; Rueda, Oscar M OM; Earl, Helena M HM; Caldas, Carlos C
Publication Date: 2022-01

Variant appearance in text: TG: 1304T>A
PubMed Link: 34875674
Variant Present in the following documents:
  • 41586_2021_4278_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



A novel p.Gly417Valfs*12 mutation in the MTTP gene causing abetalipoproteinemia: Presentation of the first patient in Mexico and analysis of the previously reported cases.

Journal Of Clinical Laboratory Analysis
Rodríguez Gutiérrez, Perla Graciela PG; González García, Juan Ramón JR; Castillo De León, Yolanda Alicia YA; Zárate Guerrero, Juan Rafael JR; Magaña Torres, María Teresa MT
Publication Date: 2021-03

Variant appearance in text: TG: 1304T>A
PubMed Link: 33258201
Variant Present in the following documents:
  • JCLA-35-e23672.pdf
View BVdb publication page



Genome and phylogenetic analyses of Trypanosoma evansi reveal extensive similarity to T. brucei and multiple independent origins for dyskinetoplasty.

Plos Neglected Tropical Diseases
Carnes, Jason J; Anupama, Atashi A; Balmer, Oliver O; Jackson, Andrew A; Lewis, Michael M; Brown, Rob R; Cestari, Igor I; Desquesnes, Marc M; Gendrin, Claire C; Hertz-Fowler, Christiane C; Imamura, Hideo H; Ivens, Alasdair A; Kořený, Luděk L; Lai, De-Hua DH; MacLeod, Annette A; McDermott, Suzanne M SM; Merritt, Chris C; Monnerat, Severine S; Moon, Wonjong W; Myler, Peter P; Phan, Isabelle I; Ramasamy, Gowthaman G; Sivam, Dhileep D; Lun, Zhao-Rong ZR; Lukeš, Julius J; Stuart, Ken K; Schnaufer, Achim A
Publication Date: 2015-01

Variant appearance in text: TG: Val435Asp
PubMed Link: 25568942
Variant Present in the following documents:
  • pntd.0003404.s019.xlsx, sheet 1
View BVdb publication page