GC c.659G>T ;(p.C220F)

Variant ID: 4-72629167-C-A

NM_000583.3(GC):c.659G>T;(p.C220F)

This variant was identified in 7 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: 659G>T
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Low neoantigen expression and poor T-cell priming underlie early immune escape in colorectal cancer.

Nature Cancer
Westcott, Peter M K PMK; Sacks, Nathan J NJ; Schenkel, Jason M JM; Ely, Zackery A ZA; Smith, Olivia O; Hauck, Haley H; Jaeger, Alex M AM; Zhang, Daniel D; Backlund, Coralie M CM; Beytagh, Mary C MC; Patten, J J JJ; Elbashir, Ryan R; Eng, George G; Irvine, Darrell J DJ; Yilmaz, Omer H OH; Jacks, Tyler T
Publication Date: 2021-10

Variant appearance in text: GC: 659G>T; Cys220Phe
PubMed Link: 34738089
Variant Present in the following documents:
  • NIHMS1725490-supplement-Source_Data_Figure_1.xlsx, sheet 1
View BVdb publication page



Mutational landscape of marginal zone B-cell lymphomas of various origin: organotypic alterations and diagnostic potential for assignment of organ origin.

Virchows Archiv : An International Journal Of Pathology
Vela, Visar V; Juskevicius, Darius D; Dirnhofer, Stefan S; Menter, Thomas T; Tzankov, Alexandar A
Publication Date: 2022-02

Variant appearance in text: GC: 659G>T; C220F
PubMed Link: 34494161
Variant Present in the following documents:
  • 428_2021_3186_MOESM22_ESM.xlsx, sheet 1
  • 428_2021_3186_MOESM21_ESM.xlsx, sheet 1
View BVdb publication page



Large-scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia.

Human Mutation
Del Angel, Guillermo G; Reynders, John J; Negron, Christopher C; Steinbrecher, Thomas T; Mornet, Etienne E
Publication Date: 2020-07

Variant appearance in text: GC: 659G>T
PubMed Link: 32160374
Variant Present in the following documents:
  • HUMU-41-1250-s002.xlsx, sheet 1
View BVdb publication page



Systematic Review of Somatic Mutations in Splenic Marginal Zone Lymphoma.

Scientific Reports
Jaramillo Oquendo, Carolina C; Parker, Helen H; Oscier, David D; Ennis, Sarah S; Gibson, Jane J; Strefford, Jonathan C JC
Publication Date: 2019-07-18

Variant appearance in text: GC: C220F
PubMed Link: 31320741
Variant Present in the following documents:
  • 41598_2019_46906_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Human gastric cancer modelling using organoids.

Gut
Seidlitz, Therese T; Merker, Sebastian R SR; Rothe, Alexander A; Zakrzewski, Falk F; von Neubeck, Cläre C; Grützmann, Konrad K; Sommer, Ulrich U; Schweitzer, Christine C; Schölch, Sebastian S; Uhlemann, Heike H; Gaebler, Anne-Marlene AM; Werner, Kristin K; Krause, Mechthild M; Baretton, Gustavo B GB; Welsch, Thilo T; Koo, Bon-Kyoung BK; Aust, Daniela E DE; Klink, Barbara B; Weitz, Jürgen J; Stange, Daniel E DE
Publication Date: 2019-02

Variant appearance in text: GC: 659G>T; Cys220Phe
PubMed Link: 29703791
Variant Present in the following documents:
  • gutjnl-2017-314549supp010.xlsx, sheet 3
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: GC: 659G>T
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-s003.xlsx, sheet 1
View BVdb publication page