EGR1 c.841A>G ;(p.T281A)

Variant ID: 5-137802979-A-G

NM_001964.2(EGR1):c.841A>G;(p.T281A)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


Genomic evolution towards azole resistance in Candida glabrata clinical isolates unveils the importance of CgHxt4/6/7 in azole accumulation.

Communications Biology
Galocha, Mónica M; Viana, Romeu R; Pais, Pedro P; Silva-Dias, Ana A; Cavalheiro, Mafalda M; Miranda, Isabel M IM; Van Ende, Mieke M; Souza, Caio S CS; Costa, Catarina C; Branco, Joana J; Soares, Cláudio M CM; Van Dijck, Patrick P; Rodrigues, Acácio G AG; Teixeira, Miguel C MC
Publication Date: 2022-10-21

Variant appearance in text: 225: 841A>G
PubMed Link: 36271293
Variant Present in the following documents:
  • 42003_2022_4087_MOESM5_ESM.xlsx, sheet 7
View BVdb publication page



Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies.

Nature Communications
Absalom, Nathan L NL; Liao, Vivian W Y VWY; Johannesen, Katrine M H KMH; Gardella, Elena E; Jacobs, Julia J; Lesca, Gaetan G; Gokce-Samar, Zeynep Z; Arzimanoglou, Alexis A; Zeidler, Shimriet S; Striano, Pasquale P; Meyer, Pierre P; Benkel-Herrenbrueck, Ira I; Mero, Inger-Lise IL; Rummel, Jutta J; Chebib, Mary M; Møller, Rikke S RS; Ahring, Philip K PK
Publication Date: 2022-04-05

Variant appearance in text: 225: 841A>G
PubMed Link: 35383156
Variant Present in the following documents:
  • 41467_2022_29280_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A missense mutation in Pitx2 leads to early-onset glaucoma via NRF2-YAP1 axis.

Cell Death & Disease
Yang, Yeming Y; Li, Xiao X; Wang, Jieping J; Tan, Junkai J; Fitzmaurice, Bernie B; Nishina, Patsy M PM; Sun, Kuanxiang K; Tian, Wanli W; Liu, Wenjing W; Liu, Xuyang X; Chang, Bo B; Zhu, Xianjun X
Publication Date: 2021-10-29

Variant appearance in text: 225: T281A
PubMed Link: 34716303
Variant Present in the following documents:
  • 41419_2021_4331_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021-10-19

Variant appearance in text: 225: T281A
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 3
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021

Variant appearance in text: 225: T281A
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 3
View BVdb publication page



The evolving proteome of SARS-CoV-2 predominantly uses mutation combination strategy for survival.

Computational And Structural Biotechnology Journal
Patro, L Ponoop Prasad LPP; Sathyaseelan, Chakkarai C; Uttamrao, Patil Pranita PP; Rathinavelan, Thenmalarchelvi T
Publication Date: 2021

Variant appearance in text: 225: T281A
PubMed Link: 34109017
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08

Variant appearance in text: 225: T281A
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Spontaneous Mutations in HIV-1 Gag, Protease, RT p66 in the First Replication Cycle and How They Appear: Insights from an In Vitro Assay on Mutation Rates and Types.

International Journal Of Molecular Sciences
Yeo, Joshua Yi JY; Koh, Darius Wen-Shuo DW; Yap, Ping P; Goh, Ghin-Ray GR; Gan, Samuel Ken-En SK
Publication Date: 2020-12-31

Variant appearance in text: 225: T281A
PubMed Link: 33396460
Variant Present in the following documents:
  • ijms-22-00370-s001.pdf
View BVdb publication page



Dominance of the ON1 Genotype of RSV-A and BA9 Genotype of RSV-B in Respiratory Cases from Jeddah, Saudi Arabia.

Genes
A Al-Sharif, Hessa H; El-Kafrawy, Sherif A SA; Yousef, Jehad M JM; Kumosani, Taha A TA; Kamal, Mohammad A MA; Khathlan, Norah A NA; Kaki, Reham M RM; Alnajjar, Abeer A AA; Azhar, Esam I EI
Publication Date: 2020-11-09

Variant appearance in text: 225: T281A
PubMed Link: 33182267
Variant Present in the following documents:
  • Main text
  • genes-11-01323.pdf
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: 841A>G
PubMed Link: 32055024
Variant Present in the following documents:
  • 41388_2020_1198_MOESM2_ESM.xlsx, sheet 1
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: 841A>G
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: 841A>G
PubMed Link: 30646861
Variant Present in the following documents:
  • 12870_2018_1601_MOESM7_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: 225: 841A>G
PubMed Link: 28202015
Variant Present in the following documents:
  • 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



The Affymetrix DMET Plus platform reveals unique distribution of ADME-related variants in ethnic Arabs.

Disease Markers
Wakil, Salma M SM; Nguyen, Cao C; Muiya, Nzioka P NP; Andres, Editha E; Lykowska-Tarnowska, Agnieszka A; Baz, Batoul B; Tahir, Asma I AI; Meyer, Brian F BF; Morahan, Grant G; Dzimiri, Nduna N
Publication Date: 2015

Variant appearance in text: 225: 841A>G
PubMed Link: 25802476
Variant Present in the following documents:
  • 542543.f1.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: T281A
PubMed Link: 24913145
Variant Present in the following documents:
  • oncotarget-05-2912-s003.xlsx, sheet 1
View BVdb publication page