EGR1 c.547T>G ;(p.S183A)

Variant ID: 5-137802685-T-G

NM_001964.2(EGR1):c.547T>G;(p.S183A)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Tracking early lung cancer metastatic dissemination in TRACERx using ctDNA.

Nature
Abbosh, Christopher C; Frankell, Alexander M AM; Harrison, Thomas T; Kisistok, Judit J; Garnett, Aaron A; Johnson, Laura L; Veeriah, Selvaraju S; Moreau, Mike M; Chesh, Adrian A; Chaunzwa, Tafadzwa L TL; Weiss, Jakob J; Schroeder, Morgan R MR; Ward, Sophia S; Grigoriadis, Kristiana K; Shahpurwalla, Aamir A; Litchfield, Kevin K; Puttick, Clare C; Biswas, Dhruva D; Karasaki, Takahiro T; Black, James R M JRM; Martínez-Ruiz, Carlos C; Bakir, Maise Al MA; Pich, Oriol O; Watkins, Thomas B K TBK; Lim, Emilia L EL; Huebner, Ariana A; Moore, David A DA; Godin-Heymann, Nadia N; L'Hernault, Anne A; Bye, Hannah H; Odell, Aaron A; Roberts, Paula P; Gomes, Fabio F; Patel, Akshay J AJ; Manzano, Elizabeth E; Hiley, Crispin T CT; Carey, Nicolas N; Riley, Joan J; Cook, Daniel E DE; Hodgson, Darren D; Stetson, Daniel D; Barrett, J Carl JC; Kortlever, Roderik M RM; Evan, Gerard I GI; Hackshaw, Allan A; Daber, Robert D RD; Shaw, Jacqui A JA; Aerts, Hugo J W L HJWL; Licon, Abel A; Stahl, Josh J; Jamal-Hanjani, Mariam M; , ; Birkbak, Nicolai J NJ; McGranahan, Nicholas N; Swanton, Charles C
Publication Date: 2023-04-13

Variant appearance in text: 225: S183A
PubMed Link: 37055640
Variant Present in the following documents:
  • EMS176197-supplement-Supplementary_Table_1.xlsx, sheet 18
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: 225: S183A
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
View BVdb publication page



Genetic Characterization and Pathogenesis of Avian Influenza Virus H7N3 Isolated from Spot-Billed Ducks in South Korea, Early 2019.

Viruses
Trinh, Thuy-Tien Thi TT; Tiwari, Indira I; Durairaj, Kaliannan K; Duong, Bao Tuan BT; Nguyen, Anh Thi Viet ATV; Tuong, Hien Thi HT; Hoang, Vui Thi VT; Than, Duong Duc DD; Nam, SunJeong S; Yeo, Seon-Ju SJ; Park, Hyun H
Publication Date: 2021-05-07

Variant appearance in text: 225: S183A
PubMed Link: 34067187
Variant Present in the following documents:
  • Main text
View BVdb publication page



Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.

Plos One
Fields, Francisco R FR; Suresh, Niraja N; Hiller, Morgan M; Freed, Stefan D SD; Haldar, Kasturi K; Lee, Shaun W SW
Publication Date: 2020

Variant appearance in text: 225: S183A
PubMed Link: 33151962
Variant Present in the following documents:
  • pone.0234100.s006.xlsx, sheet 2
View BVdb publication page



Targeting DDR2 enhances tumor response to anti-PD-1 immunotherapy.

Science Advances
Tu, Megan M MM; Lee, Francis Y F FYF; Jones, Robert T RT; Kimball, Abigail K AK; Saravia, Elizabeth E; Graziano, Robert F RF; Coleman, Brianne B; Menard, Krista K; Yan, Jun J; Michaud, Erin E; Chang, Han H; Abdel-Hafiz, Hany A HA; Rozhok, Andrii I AI; Duex, Jason E JE; Agarwal, Neeraj N; Chauca-Diaz, Ana A; Johnson, Linda K LK; Ng, Terry L TL; Cambier, John C JC; Clambey, Eric T ET; Costello, James C JC; Korman, Alan J AJ; Theodorescu, Dan D
Publication Date: 2019-02

Variant appearance in text: 225: 547T>G
PubMed Link: 30801016
Variant Present in the following documents:
  • aav2437_Table_S1.xlsx, sheet 1
View BVdb publication page



Mutational processes shape the landscape of TP53 mutations in human cancer.

Nature Genetics
Giacomelli, Andrew O AO; Yang, Xiaoping X; Lintner, Robert E RE; McFarland, James M JM; Duby, Marc M; Kim, Jaegil J; Howard, Thomas P TP; Takeda, David Y DY; Ly, Seav Huong SH; Kim, Eejung E; Gannon, Hugh S HS; Hurhula, Brian B; Sharpe, Ted T; Goodale, Amy A; Fritchman, Briana B; Steelman, Scott S; Vazquez, Francisca F; Tsherniak, Aviad A; Aguirre, Andrew J AJ; Doench, John G JG; Piccioni, Federica F; Roberts, Charles W M CWM; Meyerson, Matthew M; Getz, Gad G; Johannessen, Cory M CM; Root, David E DE; Hahn, William C WC
Publication Date: 2018-10

Variant appearance in text: 225: S183A
PubMed Link: 30224644
Variant Present in the following documents:
  • NIHMS1501645-supplement-4.xlsx, sheet 1
View BVdb publication page



Pathogenic Nocardia cyriacigeorgica and Nocardia nova Evolve To Resist Trimethoprim-Sulfamethoxazole by both Expected and Unexpected Pathways.

Antimicrobial Agents And Chemotherapy
Mehta, H H; Weng, J J; Prater, A A; Elworth, R A L RAL; Han, X X; Shamoo, Y Y
Publication Date: 2018-07

Variant appearance in text: 225: S183A
PubMed Link: 29686152
Variant Present in the following documents:
  • Main text
View BVdb publication page



A type III complement factor D deficiency: Structural insights for inhibition of the alternative pathway.

The Journal Of Allergy And Clinical Immunology
Sng, Christopher C T CCT; O'Byrne, Sorcha S; Prigozhin, Daniil M DM; Bauer, Matthias R MR; Harvey, Jennifer C JC; Ruhle, Michelle M; Challis, Ben G BG; Lear, Sara S; Roberts, Lee D LD; Workman, Sarita S; Janowitz, Tobias T; Magiera, Lukasz L; Doffinger, Rainer R; Buckland, Matthew S MS; Jodrell, Duncan J DJ; Semple, Robert K RK; Wilson, Timothy J TJ; Modis, Yorgo Y; Thaventhiran, James E D JED
Publication Date: 2018-07

Variant appearance in text: 225: S183A
PubMed Link: 29522842
Variant Present in the following documents:
  • main.pdf
View BVdb publication page