EGR1 c.878A>G ;(p.K293R)

Variant ID: 5-137803016-A-G

NM_001964.2(EGR1):c.878A>G;(p.K293R)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.

Genome Medicine
Gillentine, Madelyn A MA; Wang, Tianyun T; Hoekzema, Kendra K; Rosenfeld, Jill J; Liu, Pengfei P; Guo, Hui H; Kim, Chang N CN; De Vries, Bert B A BBA; Vissers, Lisenka E L M LELM; Nordenskjold, Magnus M; Kvarnung, Malin M; Lindstrand, Anna A; Nordgren, Ann A; Gecz, Jozef J; Iascone, Maria M; Cereda, Anna A; Scatigno, Agnese A; Maitz, Silvia S; Zanni, Ginevra G; Bertini, Enrico E; Zweier, Christiane C; Schuhmann, Sarah S; Wiesener, Antje A; Pepper, Micah M; Panjwani, Heena H; Torti, Erin E; Abid, Farida F; Anselm, Irina I; Srivastava, Siddharth S; Atwal, Paldeep P; Bacino, Carlos A CA; Bhat, Gifty G; Cobian, Katherine K; Bird, Lynne M LM; Friedman, Jennifer J; Wright, Meredith S MS; Callewaert, Bert B; Petit, Florence F; Mathieu, Sophie S; Afenjar, Alexandra A; Christensen, Celenie K CK; White, Kerry M KM; Elpeleg, Orly O; Berger, Itai I; Espineli, Edward J EJ; Fagerberg, Christina C; Brasch-Andersen, Charlotte C; Hansen, Lars Kjærsgaard LK; Feyma, Timothy T; Hughes, Susan S; Thiffault, Isabelle I; Sullivan, Bonnie B; Yan, Shuang S; Keller, Kory K; Keren, Boris B; Mignot, Cyril C; Kooy, Frank F; Meuwissen, Marije M; Basinger, Alice A; Kukolich, Mary M; Philips, Meredith M; Ortega, Lucia L; Drummond-Borg, Margaret M; Lauridsen, Mathilde M; Sorensen, Kristina K; Lehman, Anna A; , ; Lopez-Rangel, Elena E; Levy, Paul P; Lessel, Davor D; Lotze, Timothy T; Madan-Khetarpal, Suneeta S; Sebastian, Jessica J; Vento, Jodie J; Vats, Divya D; Benman, L Manace LM; Mckee, Shane S; Mirzaa, Ghayda M GM; Muss, Candace C; Pappas, John J; Peeters, Hilde H; Romano, Corrado C; Elia, Maurizio M; Galesi, Ornella O; Simon, Marleen E H MEH; van Gassen, Koen L I KLI; Simpson, Kara K; Stratton, Robert R; Syed, Sabeen S; Thevenon, Julien J; Palafoll, Irene Valenzuela IV; Vitobello, Antonio A; Bournez, Marie M; Faivre, Laurence L; Xia, Kun K; , ; Earl, Rachel K RK; Nowakowski, Tomasz T; Bernier, Raphael A RA; Eichler, Evan E EE
Publication Date: 2021-04-19

Variant appearance in text: 225: 878A>G
PubMed Link: 33874999
Variant Present in the following documents:
  • 13073_2021_870_MOESM1_ESM.xlsx, sheet 7
View BVdb publication page



A Multipronged Approach Establishes Covalent Modification of β-Tubulin as the Mode of Action of Benzamide Anti-cancer Toxins.

Journal Of Medicinal Chemistry
Povedano, Juan Manuel JM; Rallabandi, Rameshu R; Bai, Xin X; Ye, Xuecheng X; Liou, Joel J; Chen, Hong H; Kim, Jiwoong J; Xie, Yang Y; Posner, Bruce B; Rice, Luke L; De Brabander, Jef K JK; McFadden, David G DG
Publication Date: 2020-11-25

Variant appearance in text: 225: 878A>G
PubMed Link: 33180487
Variant Present in the following documents:
  • jm0c01482_si_002.xlsx, sheet 1
View BVdb publication page



The PPAR Ω Pocket: Renewed Opportunities for Drug Development.

Ppar Research
Kaupang, Åsmund Å; Hansen, Trond Vidar TV
Publication Date: 2020

Variant appearance in text: 225: Lys293Arg
PubMed Link: 32695150
Variant Present in the following documents:
  • Main text
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: 225: 878A>G
PubMed Link: 32055024
Variant Present in the following documents:
  • 41388_2020_1198_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Transcriptomic signature reveals mechanism of flower bud distortion in witches'-broom disease of soybean (Glycine max).

Bmc Plant Biology
Jaiswal, Sarika S; Jadhav, Pravin V PV; Jasrotia, Rahul Singh RS; Kale, Prashant B PB; Kad, Snehal K SK; Moharil, Mangesh P MP; Dudhare, Mahendra S MS; Kheni, Jashminkumar J; Deshmukh, Amit G AG; Mane, Shyamsundar S SS; Nandanwar, Ravindra S RS; Penna, Suprasanna S; Manjaya, Joy G JG; Iquebal, Mir Asif MA; Tomar, Rukam Singh RS; Kawar, Prashant G PG; Rai, Anil A; Kumar, Dinesh D
Publication Date: 2019-01-15

Variant appearance in text: 225: 878A>G
PubMed Link: 30646861
Variant Present in the following documents:
  • 12870_2018_1601_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Integrated genomic and metabolomic profiling of ISC1, an emerging Leishmania donovani population in the Indian subcontinent.

Infection, Genetics And Evolution : Journal Of Molecular Epidemiology And Evolutionary Genetics In Infectious Diseases
Cuypers, Bart B; Berg, Maya M; Imamura, Hideo H; Dumetz, Franck F; De Muylder, Géraldine G; Domagalska, Malgorzata A MA; Rijal, Suman S; Bhattarai, Narayan Raj NR; Maes, Ilse I; Sanders, Mandy M; Cotton, James A JA; Meysman, Pieter P; Laukens, Kris K; Dujardin, Jean-Claude JC
Publication Date: 2018-08

Variant appearance in text: 225: 878A>G
PubMed Link: 29679745
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
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: 225: 878A>G
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-s002.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: 225: 878A>G
PubMed Link: 28202015
Variant Present in the following documents:
  • 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page