EGR1 c.65C>A ;(p.S22Y)

Variant ID: 5-137801515-C-A

NM_001964.2(EGR1):c.65C>A;(p.S22Y)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis.

Embo Molecular Medicine
Wong, Samantha S; Tan, Yu Xuan YX; Loh, Abigail Yi Ting AYT; Tan, Kiat Yi KY; Lee, Hane H; Aziz, Zainab Z; Nelson, Stanley F SF; Özkan, Engin E; Kayserili, Hülya H; Escande-Beillard, Nathalie N; Reversade, Bruno B
Publication Date: 2023-04-17

Variant appearance in text: 225: 65C>A
PubMed Link: 37066513
Variant Present in the following documents:
  • EMMM-15-e17078-s005.xlsx, sheet 4
  • EMMM-15-e17078-s005.xlsx, sheet 5
View BVdb publication page



Combined exome and transcriptome sequencing of non-muscle-invasive bladder cancer: associations between genomic changes, expression subtypes, and clinical outcomes.

Genome Medicine
Goel, Anshita A; Ward, Douglas G DG; Noyvert, Boris B; Yu, Minghao M; Gordon, Naheema S NS; Abbotts, Ben B; Colbourne, John K JK; Kissane, Stephen S; James, Nicholas D ND; Zeegers, Maurice P MP; Cheng, Kar Keung KK; Cazier, Jean-Baptiste JB; Whalley, Celina M CM; Beggs, Andrew D AD; Palles, Claire C; Arnold, Roland R; Bryan, Richard T RT
Publication Date: 2022-06-03

Variant appearance in text: 225: 65C>A
PubMed Link: 35655252
Variant Present in the following documents:
  • 13073_2022_1056_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Single-cell analysis of human primary prostate cancer reveals the heterogeneity of tumor-associated epithelial cell states.

Nature Communications
Song, Hanbing H; Weinstein, Hannah N W HNW; Allegakoen, Paul P; Wadsworth, Marc H MH; Xie, Jamie J; Yang, Heiko H; Castro, Ethan A EA; Lu, Kevin L KL; Stohr, Bradley A BA; Feng, Felix Y FY; Carroll, Peter R PR; Wang, Bruce B; Cooperberg, Matthew R MR; Shalek, Alex K AK; Huang, Franklin W FW
Publication Date: 2022-01-10

Variant appearance in text: 225: 65C>A
PubMed Link: 35013146
Variant Present in the following documents:
  • 41467_2021_27322_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Health Condition Estimation of Bearings with Multiple Faults by a Composite Learning-Based Approach.

Sensors (Basel, Switzerland)
Inyang, Udeme U; Petrunin, Ivan I; Jennions, Ian I
Publication Date: 2021-06-28

Variant appearance in text: 225: s22Y
PubMed Link: 34203372
Variant Present in the following documents:
  • sensors-21-04424.pdf
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: 65C>A
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: 65C>A
PubMed Link: 29679745
Variant Present in the following documents:
  • mmc3.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: 65C>A
PubMed Link: 28202015
Variant Present in the following documents:
  • 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page