TG c.1246T>C ;(p.F416L)

Variant ID: 8-133898863-T-C

NM_003235.4(TG):c.1246T>C;(p.F416L)

This variant was identified in 6 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: 1246T>C
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Rickettsia felis DNA recovered from a child who lived in southern Africa 2000 years ago.

Communications Biology
Rifkin, Riaan F RF; Vikram, Surendra S; Alcorta, Jaime J; Ramond, Jean-Baptiste JB; Cowan, Don A DA; Jakobsson, Mattias M; Schlebusch, Carina M CM; Lombard, Marlize M
Publication Date: 2023-03-03

Variant appearance in text: TG: 1246T>C
PubMed Link: 36869137
Variant Present in the following documents:
  • 42003_2023_4582_MOESM4_ESM.xlsx, sheet 10
View BVdb publication page



An EZH2-dependent transcriptional complex promotes aberrant epithelial remodelling after injury.

Embo Reports
Le, Huy Q HQ; Hill, Matthew A MA; Kollak, Ines I; Keck, Martina M; Schroeder, Victoria V; Wirth, Johannes J; Skronska-Wasek, Wioletta W; Schruf, Eva E; Strobel, Benjamin B; Stahl, Heiko H; Herrmann, Franziska E FE; Campos, Alexandre R AR; Li, Jun J; Quast, Karsten K; Knebel, Dagmar D; Viollet, Coralie C; Thomas, Matthew J MJ; Lamb, David D; Garnett, James P JP
Publication Date: 2021-08-04

Variant appearance in text: TG: F416L
PubMed Link: 34224201
Variant Present in the following documents:
  • EMBR-22-e52785.pdf
View BVdb publication page



A nutrient-limited screen unmasks rifabutin hyperactivity for extensively drug-resistant Acinetobacter baumannii.

Nature Microbiology
Luna, Brian B; Trebosc, Vincent V; Lee, Bosul B; Bakowski, Malina M; Ulhaq, Amber A; Yan, Jun J; Lu, Peggy P; Cheng, Jiaqi J; Nielsen, Travis T; Lim, Juhyeon J; Ketphan, Warisa W; Eoh, Hyungjin H; McNamara, Case C; Skandalis, Nicholas N; She, Rosemary R; Kemmer, Christian C; Lociuro, Sergio S; Dale, Glenn E GE; Spellberg, Brad B
Publication Date: 2020-09

Variant appearance in text: TG: 1246T>C
PubMed Link: 32514072
Variant Present in the following documents:
  • NIHMS1592993-supplement-1592993_Supp_Tab2.xlsx, sheet 9
View BVdb publication page



Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21

Variant appearance in text: TG: 1246T>C
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-s002.xlsx, sheet 1
View BVdb publication page



Recurrent PTPRB and PLCG1 mutations in angiosarcoma.

Nature Genetics
Behjati, Sam S; Tarpey, Patrick S PS; Sheldon, Helen H; Martincorena, Inigo I; Van Loo, Peter P; Gundem, Gunes G; Wedge, David C DC; Ramakrishna, Manasa M; Cooke, Susanna L SL; Pillay, Nischalan N; Vollan, Hans Kristian M HKM; Papaemmanuil, Elli E; Koss, Hans H; Bunney, Tom D TD; Hardy, Claire C; Joseph, Olivia R OR; Martin, Sancha S; Mudie, Laura L; Butler, Adam A; Teague, Jon W JW; Patil, Meena M; Steers, Graham G; Cao, Yu Y; Gumbs, Curtis C; Ingram, Davis D; Lazar, Alexander J AJ; Little, Latasha L; Mahadeshwar, Harshad H; Protopopov, Alexei A; Al Sannaa, Ghadah A GA; Seth, Sahil S; Song, Xingzhi X; Tang, Jiabin J; Zhang, Jianhua J; Ravi, Vinod V; Torres, Keila E KE; Khatri, Bhavisha B; Halai, Dina D; Roxanis, Ioannis I; Baumhoer, Daniel D; Tirabosco, Roberto R; Amary, M Fernanda MF; Boshoff, Chris C; McDermott, Ultan U; Katan, Matilda M; Stratton, Michael R MR; Futreal, P Andrew PA; Flanagan, Adrienne M AM; Harris, Adrian A; Campbell, Peter J PJ
Publication Date: 2014-04

Variant appearance in text: TG: 1246T>C; F416L
PubMed Link: 24633157
Variant Present in the following documents:
  • NIHMS57096-supplement-3.xlsx, sheet 1
View BVdb publication page