EGR1 c.839G>A ;(p.R280H)

Variant ID: 5-137802977-G-A

NM_001964.2(EGR1):c.839G>A;(p.R280H)

This variant was identified in 18 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: 225: R280H
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



TK216 targets microtubules in Ewing sarcoma cells.

Cell Chemical Biology
Povedano, Juan Manuel JM; Li, Vicky V; Lake, Katherine E KE; Bai, Xin X; Rallabandi, Rameshu R; Kim, Jiwoong J; Xie, Yang Y; De Brabander, Jef K JK; McFadden, David G DG
Publication Date: 2022-08-18

Variant appearance in text: 225: 839G>A
PubMed Link: 35803262
Variant Present in the following documents:
  • mmc2.xlsx, sheet 2
View BVdb publication page



Protein Engineering Approaches to Enhance Fungal Laccase Production in S. cerevisiae.

International Journal Of Molecular Sciences
Aza, Pablo P; de Salas, Felipe F; Molpeceres, Gonzalo G; Rodríguez-Escribano, David D; de la Fuente, Iñigo I; Camarero, Susana S
Publication Date: 2021-01-25

Variant appearance in text: 225: R280H
PubMed Link: 33503813
Variant Present in the following documents:
  • Main text
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: 839G>A
PubMed Link: 33123180
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: EGR1: R280H
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Identification of Single Nucleotide Polymorphism in Red Clover (Trifolium pratense L.) Using Targeted Genomic Amplicon Sequencing and RNA-seq.

Frontiers In Plant Science
Li, Wenli W; Riday, Heathcliffe H; Riehle, Christina C; Edwards, Andrea A; Dinkins, Randy R
Publication Date: 2019

Variant appearance in text: 225: 839G>A
PubMed Link: 31708937
Variant Present in the following documents:
  • DataSheet_2.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: 839G>A
PubMed Link: 30646861
Variant Present in the following documents:
  • 12870_2018_1601_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium.

Scientific Reports
Popp, Bernt B; Krumbiegel, Mandy M; Grosch, Janina J; Sommer, Annika A; Uebe, Steffen S; Kohl, Zacharias Z; Plötz, Sonja S; Farrell, Michaela M; Trautmann, Udo U; Kraus, Cornelia C; Ekici, Arif B AB; Asadollahi, Reza R; Regensburger, Martin M; Günther, Katharina K; Rauch, Anita A; Edenhofer, Frank F; Winkler, Jürgen J; Winner, Beate B; Reis, André A
Publication Date: 2018-11-21

Variant appearance in text: 225: 839G>A
PubMed Link: 30464253
Variant Present in the following documents:
  • 41598_2018_35506_MOESM5_ESM.xlsx, sheet 4
View BVdb publication page



Therapeutic targeting of ependymoma as informed by oncogenic enhancer profiling.

Nature
Mack, Stephen C SC; Pajtler, Kristian W KW; Chavez, Lukas L; Okonechnikov, Konstantin K; Bertrand, Kelsey C KC; Wang, Xiuxing X; Erkek, Serap S; Federation, Alexander A; Song, Anne A; Lee, Christine C; Wang, Xin X; McDonald, Laura L; Morrow, James J JJ; Saiakhova, Alina A; Sin-Chan, Patrick P; Wu, Qiulian Q; Michaelraj, Kulandaimanuvel Antony KA; Miller, Tyler E TE; Hubert, Christopher G CG; Ryzhova, Marina M; Garzia, Livia L; Donovan, Laura L; Dombrowski, Stephen S; Factor, Daniel C DC; Luu, Betty B; Valentim, Claudia L L CLL; Gimple, Ryan C RC; Morton, Andrew A; Kim, Leo L; Prager, Briana C BC; Lee, John J Y JJY; Wu, Xiaochong X; Zuccaro, Jennifer J; Thompson, Yuan Y; Holgado, Borja L BL; Reimand, Jüri J; Ke, Susan Q SQ; Tropper, Adam A; Lai, Sisi S; Vijayarajah, Senthuran S; Doan, Sylvia S; Mahadev, Vaidehi V; Miñan, Ana Fernandez AF; Gröbner, Susanne N SN; Lienhard, Matthias M; Zapatka, Marc M; Huang, Zhiqin Z; Aldape, Kenneth D KD; Carcaboso, Angel M AM; Houghton, Peter J PJ; Keir, Stephen T ST; Milde, Till T; Witt, Hendrik H; Li, Yan Y; Li, Chao-Jun CJ; Bian, Xiu-Wu XW; Jones, David T W DTW; Scott, Ian I; Singh, Sheila K SK; Huang, Annie A; Dirks, Peter B PB; Bouffet, Eric E; Bradner, James E JE; Ramaswamy, Vijay V; Jabado, Nada N; Rutka, James T JT; Northcott, Paul A PA; Lupien, Mathieu M; Lichter, Peter P; Korshunov, Andrey A; Scacheri, Peter C PC; Pfister, Stefan M SM; Kool, Marcel M; Taylor, Michael D MD; Rich, Jeremy N JN
Publication Date: 2018-01-04

Variant appearance in text: 225: R280H
PubMed Link: 29258295
Variant Present in the following documents:
  • NIHMS922534-supplement-Sup_Tables_1-23.xlsx, sheet 8
View BVdb publication page



Evolved α-factor prepro-leaders for directed laccase evolution in Saccharomyces cerevisiae.

Microbial Biotechnology
Mateljak, Ivan I; Tron, Thierry T; Alcalde, Miguel M
Publication Date: 2017-11

Variant appearance in text: 225: R280H
PubMed Link: 28805314
Variant Present in the following documents:
  • Main text
  • MBT2-10-1830.pdf
View BVdb publication page



Identification and analysis of mutational hotspots in oncogenes and tumour suppressors.

Oncotarget
Baeissa, Hanadi H; Benstead-Hume, Graeme G; Richardson, Christopher J CJ; Pearl, Frances M G FMG
Publication Date: 2017-03-28

Variant appearance in text: 225: R280H
PubMed Link: 28423505
Variant Present in the following documents:
  • oncotarget-08-21290-s007.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: 839G>A
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
  • NIHMS65345-supplement-Supplementary_table_1.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: EGR1: R280H
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



The CDC Hemophilia B mutation project mutation list: a new online resource.

Molecular Genetics & Genomic Medicine
Li, Tengguo T; Miller, Connie H CH; Payne, Amanda B AB; Craig Hooper, W W
Publication Date: 2013-11

Variant appearance in text: 225: 839G>A
PubMed Link: 24498619
Variant Present in the following documents:
  • mgg30001-0238-SD1.xlsx, sheet 2
View BVdb publication page



Engineering platforms for directed evolution of Laccase from Pycnoporus cinnabarinus.

Applied And Environmental Microbiology
Camarero, S S; Pardo, I I; Cañas, A I AI; Molina, P P; Record, E E; Martínez, A T AT; Martínez, M J MJ; Alcalde, M M
Publication Date: 2012-03

Variant appearance in text: 225: R280H
PubMed Link: 22210206
Variant Present in the following documents:
  • Main text
View BVdb publication page



High frequency of complex TP53 mutations in CNS metastases from breast cancer.

British Journal Of Cancer
Lo Nigro, C C; Vivenza, D D; Monteverde, M M; Lattanzio, L L; Gojis, O O; Garrone, O O; Comino, A A; Merlano, M M; Quinlan, P R PR; Syed, N N; Purdie, C A CA; Thompson, A A; Palmieri, C C; Crook, T T
Publication Date: 2012-01-17

Variant appearance in text: 225: 839G>A
PubMed Link: 22187033
Variant Present in the following documents:
  • Main text
View BVdb publication page



The coenzyme specificity of Candida tenuis xylose reductase (AKR2B5) explored by site-directed mutagenesis and X-ray crystallography.

The Biochemical Journal
Petschacher, Barbara B; Leitgeb, Stefan S; Kavanagh, Kathryn L KL; Wilson, David K DK; Nidetzky, Bernd B
Publication Date: 2005-01-01

Variant appearance in text: 225: R280H
PubMed Link: 15320875
Variant Present in the following documents:
  • Main text
View BVdb publication page