GAA c.944G>C ;(p.S315T)

Variant ID: 17-78081684-G-C

NM_000152.3(GAA):c.944G>C;(p.S315T)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Integrating standardized whole genome sequence analysis with a global Mycobacterium tuberculosis antibiotic resistance knowledgebase.

Scientific Reports
Ezewudo, Matthew M; Borens, Amanda A; Chiner-Oms, Álvaro Á; Miotto, Paolo P; Chindelevitch, Leonid L; Starks, Angela M AM; Hanna, Debra D; Liwski, Richard R; Zignol, Matteo M; Gilpin, Christopher C; Niemann, Stefan S; Kohl, Thomas Andreas TA; Warren, Robin M RM; Crook, Derrick D; Gagneux, Sebastien S; Hoffner, Sven S; Rodrigues, Camilla C; Comas, Iñaki I; Engelthaler, David M DM; Alland, David D; Rigouts, Leen L; Lange, Christoph C; Dheda, Keertan K; Hasan, Rumina R; McNerney, Ruth R; Cirillo, Daniela M DM; Schito, Marco M; Rodwell, Timothy C TC; Posey, James J
Publication Date: 2018-10-18

Variant appearance in text: GAA: Ser315Thr
PubMed Link: 30337678
Variant Present in the following documents:
  • 41598_2018_Article_33731.pdf
View BVdb publication page



Mutational processes shape the landscape of TP53 mutations in human cancer.

Nature Genetics
Giacomelli, Andrew O AO; Yang, Xiaoping X; Lintner, Robert E RE; McFarland, James M JM; Duby, Marc M; Kim, Jaegil J; Howard, Thomas P TP; Takeda, David Y DY; Ly, Seav Huong SH; Kim, Eejung E; Gannon, Hugh S HS; Hurhula, Brian B; Sharpe, Ted T; Goodale, Amy A; Fritchman, Briana B; Steelman, Scott S; Vazquez, Francisca F; Tsherniak, Aviad A; Aguirre, Andrew J AJ; Doench, John G JG; Piccioni, Federica F; Roberts, Charles W M CWM; Meyerson, Matthew M; Getz, Gad G; Johannessen, Cory M CM; Root, David E DE; Hahn, William C WC
Publication Date: 2018-10

Variant appearance in text: GAA: S315T
PubMed Link: 30224644
Variant Present in the following documents:
  • NIHMS1501645-supplement-4.xlsx, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: GAA: 944G>C; S315T
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Novel katG mutations causing isoniazid resistance in clinical M. tuberculosis isolates.

Emerging Microbes & Infections
Torres, Jessica N JN; Paul, Lynthia V LV; Rodwell, Timothy C TC; Victor, Thomas C TC; Amallraja, Anu M AM; Elghraoui, Afif A; Goodmanson, Amy P AP; Ramirez-Busby, Sarah M SM; Chawla, Ashu A; Zadorozhny, Victoria V; Streicher, Elizabeth M EM; Sirgel, Frederick A FA; Catanzaro, Donald D; Rodrigues, Camilla C; Gler, Maria Tarcela MT; Crudu, Valeru V; Catanzaro, Antonino A; Valafar, Faramarz F
Publication Date: 2015-07

Variant appearance in text: GAA: S315T
PubMed Link: 26251830
Variant Present in the following documents:
  • Main text
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: GAA: Ser315Thr
PubMed Link: 25568942
Variant Present in the following documents:
  • pntd.0003404.s019.xlsx, sheet 1
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: GAA: S315T
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-5.xlsx, sheet 1
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page



Multidrug resistant Mycobacterium tuberculosis: a retrospective katG and rpoB mutation profile analysis in isolates from a reference center in Brazil.

Plos One
de Freitas, Flávia A D FA; Bernardo, Vagner V; Gomgnimbou, Michel K MK; Sola, Christophe C; Siqueira, Hélio R HR; Pereira, Márcia A S MA; Fandinho, Fátima C O FC; Gomes, Harrison M HM; Araújo, Marcelo E I ME; Suffys, Philip N PN; Marques, Elizabeth A EA; Albano, Rodolpho M RM
Publication Date: 2014

Variant appearance in text: GAA: Ser315Thr
PubMed Link: 25093512
Variant Present in the following documents:
  • pone.0104100.pdf
View BVdb publication page



Direct sequencing for rapid detection of multidrug resistant Mycobacterium tuberculosis strains in Morocco.

Infection And Drug Resistance
Zakham, Fathiah F; Chaoui, Imane I; Echchaoui, Amina Hadbae AH; Chetioui, Fouad F; Elmessaoudi, My Driss MD; Ennaji, My Mustapha MM; Abid, Mohammed M; Mzibri, Mohammed El ME
Publication Date: 2013

Variant appearance in text: GAA: Ser315Thr
PubMed Link: 24399879
Variant Present in the following documents:
  • Main text
  • idr-6-207.pdf
View BVdb publication page