GC c.847G>C ;(p.V283L)

Variant ID: 4-72622616-C-G

NM_000583.3(GC):c.847G>C;(p.V283L)

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: GC: 847G>C
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Genomic evolution towards azole resistance in Candida glabrata clinical isolates unveils the importance of CgHxt4/6/7 in azole accumulation.

Communications Biology
Galocha, Mónica M; Viana, Romeu R; Pais, Pedro P; Silva-Dias, Ana A; Cavalheiro, Mafalda M; Miranda, Isabel M IM; Van Ende, Mieke M; Souza, Caio S CS; Costa, Catarina C; Branco, Joana J; Soares, Cláudio M CM; Van Dijck, Patrick P; Rodrigues, Acácio G AG; Teixeira, Miguel C MC
Publication Date: 2022-10-21

Variant appearance in text: GC: 847G>C
PubMed Link: 36271293
Variant Present in the following documents:
  • 42003_2022_4087_MOESM4_ESM.xlsx, sheet 4
  • 42003_2022_4087_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes.

Orphanet Journal Of Rare Diseases
Borges, Pâmella P; Pasqualim, Gabriela G; Giugliani, Roberto R; Vairo, Filippo F; Matte, Ursula U
Publication Date: 2020-11-18

Variant appearance in text: GC: 847G>C
PubMed Link: 33208168
Variant Present in the following documents:
  • 13023_2020_1608_MOESM4_ESM.xlsx, sheet 12
  • 13023_2020_1608_MOESM4_ESM.xlsx, sheet 10
View BVdb publication page



Temporospatial genomic profiling in glioblastoma identifies commonly altered core pathways underlying tumor progression.

Neuro-Oncology Advances
Blomquist, Mylan R MR; Ensign, Shannon Fortin SF; D'Angelo, Fulvio F; Phillips, Joanna J JJ; Ceccarelli, Michele M; Peng, Sen S; Halperin, Rebecca F RF; Caruso, Francesca P FP; Garofano, Luciano L; Byron, Sara A SA; Liang, Winnie S WS; Craig, David W DW; Carpten, John D JD; Prados, Michael D MD; Trent, Jeffrey M JM; Berens, Michael E ME; Iavarone, Antonio A; Dhruv, Harshil H; Tran, Nhan L NL
Publication Date: 2020

Variant appearance in text: GC: V283L
PubMed Link: 32743548
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variant discovery in the sheep milk transcriptome using RNA sequencing.

Bmc Genomics
Suárez-Vega, Aroa A; Gutiérrez-Gil, Beatriz B; Klopp, Christophe C; Tosser-Klopp, Gwenola G; Arranz, Juan José JJ
Publication Date: 2017-02-15

Variant appearance in text: GC: 847G>C; Val283Leu
PubMed Link: 28202015
Variant Present in the following documents:
  • 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Evolutionary transitions to new DNA methyltransferases through target site expansion and shrinkage.

Nucleic Acids Research
Rockah-Shmuel, Liat L; Tawfik, Dan S DS
Publication Date: 2012-12

Variant appearance in text: GC: Val283Leu
PubMed Link: 23074188
Variant Present in the following documents:
  • Main text
  • gks944.pdf
  • supp_gks944_nar-01664-f-2012-File008.pdf
View BVdb publication page