EGR1 c.1298C>T ;(p.S433F)

Variant ID: 5-137803436-C-T

NM_001964.2(EGR1):c.1298C>T;(p.S433F)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


UVB mutagenesis differs in Nras- and Braf-mutant mouse models of melanoma.

Life Science Alliance
Bowman, Robert L RL; Hennessey, Rebecca C RC; Weiss, Tirzah J TJ; Tallman, David A DA; Crawford, Emma R ER; Murphy, Brandon M BM; Webb, Amy A; Zhang, Souhui S; La Perle, Krista Md KM; Burd, Craig J CJ; Levine, Ross L RL; Shain, A Hunter AH; Burd, Christin E CE
Publication Date: 2021-09

Variant appearance in text: 225: 1298C>T
PubMed Link: 34210801
Variant Present in the following documents:
  • LSA-2021-01135_TableS1.xlsx, sheet 1
View BVdb publication page



North-Western Himalayan Common Beans: Population Structure and Mapping of Quantitative Anthracnose Resistance Through Genome Wide Association Study.

Frontiers In Plant Science
Banoo, Aqleema A; Nabi, Asha A; Rasool, Rovidha S RS; Mahiya-Farooq, ; Shah, Mehraj D MD; Ahmad, Mushtaq M; Sofi, Parvaze A PA; Aasiya-Nabi, ; Itoo, Hamidullah H; Sharma, P N PN; Padder, Bilal A BA
Publication Date: 2020

Variant appearance in text: 225: 1298C>T
PubMed Link: 33123180
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency.

European Journal Of Human Genetics : Ejhg
Baumgartner-Parzer, Sabina S; Witsch-Baumgartner, Martina M; Hoeppner, Wolfgang W
Publication Date: 2020-10

Variant appearance in text: 225: 1298C>T
PubMed Link: 32616876
Variant Present in the following documents:
  • Main text
  • 41431_2020_Article_653.pdf
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: 1298C>T
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: 1298C>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: 225: S433F
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 1
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
View BVdb publication page



Genetic heterogeneity of induced pluripotent stem cells: results from 24 clones derived from a single C57BL/6 mouse.

Plos One
Li, Cheng C; Klco, Jeffery M JM; Helton, Nichole M NM; George, Daniel R DR; Mudd, Jacqueline L JL; Miller, Christopher A CA; Lu, Charles C; Fulton, Robert R; O'Laughlin, Michelle M; Fronick, Catrina C; Wilson, Richard K RK; Ley, Timothy J TJ
Publication Date: 2015

Variant appearance in text: 225: S433F
PubMed Link: 25799070
Variant Present in the following documents:
  • pone.0120585.s003.xlsx, sheet 1
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: 225: S433F
PubMed Link: 24913145
Variant Present in the following documents:
  • oncotarget-05-2912-s003.xlsx, sheet 1
View BVdb publication page



Comprehensive mutation analysis in colorectal flat adenomas.

Plos One
Voorham, Quirinus J M QJ; Carvalho, Beatriz B; Spiertz, Angela J AJ; Claes, Bart B; Mongera, Sandra S; van Grieken, Nicole C T NC; Grabsch, Heike H; Kliment, Martin M; Rembacken, Bjorn B; van de Wiel, Mark A MA; Quirke, Philip P; Mulder, Chris J J CJ; Lambrechts, Diether D; van Engeland, Manon M; Meijer, Gerrit A GA
Publication Date: 2012

Variant appearance in text: 225: 1298C>T
PubMed Link: 22848674
Variant Present in the following documents:
View BVdb publication page