GC c.284C>T ;(p.S95F)

Variant ID: 4-72631338-G-A

NM_000583.3(GC):c.284C>T;(p.S95F)

This variant was identified in 13 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: 284C>T
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: 284C>T
PubMed Link: 36271293
Variant Present in the following documents:
  • 42003_2022_4087_MOESM4_ESM.xlsx, sheet 7
  • 42003_2022_4087_MOESM4_ESM.xlsx, sheet 8
View BVdb publication page



Technological Advances: CEBPA and FLT3 Internal Tandem Duplication Mutations Can be Reliably Detected by Next Generation Sequencing.

Genes
Akabari, Ratilal R; Qin, Dahui D; Hussaini, Mohammad M
Publication Date: 2022-04-01

Variant appearance in text: GC: 284C>T
PubMed Link: 35456436
Variant Present in the following documents:
  • genes-13-00630.pdf
View BVdb publication page



The global carrier frequency and genetic prevalence of Upshaw-Schulman syndrome.

Bmc Genomic Data
Zhao, Ting T; Fan, Shanghua S; Sun, Liu L
Publication Date: 2021-11-17

Variant appearance in text: GC: 284C>T
PubMed Link: 34789164
Variant Present in the following documents:
  • 12863_2021_1010_MOESM9_ESM.xlsx, sheet 1
View BVdb publication page



The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02

Variant appearance in text: GC: 284C>T; Ser95Phe
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann-Pick disease type C1.

Scientific Reports
Chiorean, Andreea A; Garver, William S WS; Meyre, David D
Publication Date: 2020-11-02

Variant appearance in text: GC: 284C>T; Ser95Phe
PubMed Link: 33139814
Variant Present in the following documents:
  • 41598_2020_75919_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Affinity maturation of a portable Fab-RNA module for chaperone-assisted RNA crystallography.

Nucleic Acids Research
Koirala, Deepak D; Shelke, Sandip A SA; Dupont, Marcel M; Ruiz, Stormy S; DasGupta, Saurja S; Bailey, Lucas J LJ; Benner, Steven A SA; Piccirilli, Joseph A JA
Publication Date: 2018-03-16

Variant appearance in text: GC: S95F
PubMed Link: 29309709
Variant Present in the following documents:
  • Main text
View BVdb publication page



Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP.

Plos One
Coll, Monica M; Striano, Pasquale P; Ferrer-Costa, Carles C; Campuzano, Oscar O; Matés, Jesús J; Del Olmo, Bernat B; Iglesias, Anna A; Pérez-Serra, Alexandra A; Mademont, Irene I; Picó, Ferran F; Oliva, Antonio A; Brugada, Ramon R
Publication Date: 2017

Variant appearance in text: GC: 284C>T
PubMed Link: 29261713
Variant Present in the following documents:
  • Main text
View BVdb publication page



Culture-independent genome sequencing of Coxiella burnetii from a native heart valve of a Tunisian patient with severe infective endocarditis.

New Microbes And New Infections
Delaloye, J J; Pillonel, T T; Smaoui, M M; Znazen, A A; Abid, L L; Greub, G G
Publication Date: 2018-01

Variant appearance in text: GC: 284C>T
PubMed Link: 29201381
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Landscape of genomic diversity and host adaptation in Fusarium graminearum.

Bmc Genomics
Laurent, Benoit B; Moinard, Magalie M; Spataro, Cathy C; Ponts, Nadia N; Barreau, Christian C; Foulongne-Oriol, Marie M
Publication Date: 2017-02-23

Variant appearance in text: GC: 284C>T; Ser95Phe
PubMed Link: 28231761
Variant Present in the following documents:
  • 12864_2017_3524_MOESM3_ESM.xlsx, sheet 2
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: 284C>T
PubMed Link: 28202015
Variant Present in the following documents:
  • 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: GC: 284C>T; S95L
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM4_ESM.xlsx, sheet 1
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
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: GC: Ser95Phe
PubMed Link: 25568942
Variant Present in the following documents:
  • pntd.0003404.s019.xlsx, sheet 1
View BVdb publication page