TG c.886_888delinsTGT ;(p.R296C)

Variant ID: 8-133894854-CGA-TGT

NM_003235.4(TG):c.886_888delinsTGT;(p.R296C)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Pharmacogenetic Study of Trabectedin-Induced Severe Hepatotoxicity in Patients with Advanced Soft Tissue Sarcoma.

Cancers
Maillard, Maud M; Chevreau, Christine C; Le Louedec, Félicien F; Cassou, Manon M; Delmas, Caroline C; Gourdain, Laure L; Blay, Jean-Yves JY; Cupissol, Didier D; Bompas, Emmanuelle E; Italiano, Antoine A; Isambert, Nicolas N; Delcambre-Lair, Corinne C; Penel, Nicolas N; Bertucci, François F; Guillemet, Cécile C; Plenecassagnes, Julien J; Foulon, Stéphanie S; Chatelut, Étienne É; Le Cesne, Axel A; Thomas, Fabienne F
Publication Date: 2020-12-04

Variant appearance in text: TG: Arg296Cys
PubMed Link: 33291741
Variant Present in the following documents:
  • cancers-12-03647-s001.pdf
View BVdb publication page



Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.

Nature Genetics
Pol, Arjan A; Renkema, G Herma GH; Tangerman, Albert A; Winkel, Edwin G EG; Engelke, Udo F UF; de Brouwer, Arjan P M APM; Lloyd, Kent C KC; Araiza, Renee S RS; van den Heuvel, Lambert L; Omran, Heymut H; Olbrich, Heike H; Oude Elberink, Marijn M; Gilissen, Christian C; Rodenburg, Richard J RJ; Sass, Jörn Oliver JO; Schwab, K Otfried KO; Schäfer, Hendrik H; Venselaar, Hanka H; Sequeira, J Silvia JS; Op den Camp, Huub J M HJM; Wevers, Ron A RA
Publication Date: 2018-01

Variant appearance in text: TG: R296C
PubMed Link: 29255262
Variant Present in the following documents:
  • NIHMS74866-supplement-Supplementary_table_1.xlsx, sheet 4
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: TG: Arg296Cys
PubMed Link: 28231761
Variant Present in the following documents:
  • 12864_2017_3524_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: TG: R296C
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
View BVdb publication page



A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget
Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2014-05-30

Variant appearance in text: TG: R296C
PubMed Link: 24913145
Variant Present in the following documents:
  • oncotarget-05-2912-s003.xlsx, sheet 1
View BVdb publication page