TG c.881G>T ;(p.R294I)

Variant ID: 8-133894849-G-T

NM_003235.4(TG):c.881G>T;(p.R294I)

This variant was identified in 10 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: TG: 881G>T
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



MC38 colorectal tumor cell lines from two different sources display substantial differences in transcriptome, mutanome and neoantigen expression.

Frontiers In Immunology
Schrörs, Barbara B; Hos, Brett J BJ; Yildiz, Ikra G IG; Löwer, Martin M; Lang, Franziska F; Holtsträter, Christoph C; Becker, Julia J; Vormehr, Mathias M; Sahin, Ugur U; Ossendorp, Ferry F; Diken, Mustafa M
Publication Date: 2023

Variant appearance in text: TG: R294I
PubMed Link: 36969213
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
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: TG: 881G>T
PubMed Link: 34789164
Variant Present in the following documents:
  • 12863_2021_1010_MOESM9_ESM.xlsx, sheet 1
View BVdb publication page



Genomic landscape of platinum resistant and sensitive testicular cancers.

Nature Communications
Loveday, Chey C; Litchfield, Kevin K; Proszek, Paula Z PZ; Cornish, Alex J AJ; Santo, Flavia F; Levy, Max M; Macintyre, Geoff G; Holryod, Amy A; Broderick, Peter P; Dudakia, Darshna D; Benton, Barbara B; Bakir, Maise Al MA; Hiley, Crispin C; Grist, Emily E; Swanton, Charles C; Huddart, Robert R; Powles, Tom T; Chowdhury, Simon S; Shipley, Janet J; O'Connor, Simon S; Brenton, James D JD; Reid, Alison A; de Castro, David Gonzalez DG; Houlston, Richard S RS; Turnbull, Clare C
Publication Date: 2020-05-04

Variant appearance in text: TG: 881G>T; Arg294Ile
PubMed Link: 32366847
Variant Present in the following documents:
  • 41467_2020_15768_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis.

Oncogene
Luiken, Sarah S; Fraas, Angelika A; Bieg, Matthias M; Sugiyanto, Raisatun R; Goeppert, Benjamin B; Singer, Stephan S; Ploeger, Carolin C; Warsow, Gregor G; Marquardt, Jens U JU; Sticht, Carsten C; De La Torre, Carolina C; Pusch, Stefan S; Mehrabi, Arianeb A; Gretz, Norbert N; Schlesner, Matthias M; Eils, Roland R; Schirmacher, Peter P; Longerich, Thomas T; Roessler, Stephanie S
Publication Date: 2020-04

Variant appearance in text: TG: 881G>T
PubMed Link: 32055024
Variant Present in the following documents:
  • 41388_2020_1198_MOESM2_ESM.xlsx, sheet 1
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: TG: 881G>T
PubMed Link: 28202015
Variant Present in the following documents:
  • 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1
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: 881G>T; R294L
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
View BVdb publication page



Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome.

Nature Communications
Thijssen, Peter E PE; Ito, Yuya Y; Grillo, Giacomo G; Wang, Jun J; Velasco, Guillaume G; Nitta, Hirohisa H; Unoki, Motoko M; Yoshihara, Minako M; Suyama, Mikita M; Sun, Yu Y; Lemmers, Richard J L F RJ; de Greef, Jessica C JC; Gennery, Andrew A; Picco, Paolo P; Kloeckener-Gruissem, Barbara B; Güngör, Tayfun T; Reisli, Ismail I; Picard, Capucine C; Kebaili, Kamila K; Roquelaure, Bertrand B; Iwai, Tsuyako T; Kondo, Ikuko I; Kubota, Takeo T; van Ostaijen-Ten Dam, Monique M MM; van Tol, Maarten J D MJ; Weemaes, Corry C; Francastel, Claire C; van der Maarel, Silvère M SM; Sasaki, Hiroyuki H
Publication Date: 2015-07-28

Variant appearance in text: TG: 881G>T
PubMed Link: 26216346
Variant Present in the following documents:
  • ncomms8870.pdf
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: 881G>T; R294L
PubMed Link: 24913145
Variant Present in the following documents:
  • oncotarget-05-2912-s003.xlsx, sheet 1
View BVdb publication page



Mutation analysis of a cohort of US patients with hemophilia B.

American Journal Of Hematology
Li, Tengguo T; Miller, Connie H CH; Driggers, Jennifer J; Payne, Amanda B AB; Ellingsen, Dorothy D; Hooper, W Craig WC
Publication Date: 2014-04

Variant appearance in text: TG: 881G>T; Arg294Leu
PubMed Link: 24375831
Variant Present in the following documents:
  • Main text
View BVdb publication page