EGR1 c.622A>T ;(p.T208S)

Variant ID: 5-137802760-A-T

NM_001964.2(EGR1):c.622A>T;(p.T208S)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


In silico analyses of Wnt1 nsSNPs reveal structurally destabilizing variants, altered interactions with Frizzled receptors and its deregulation in tumorigenesis.

Scientific Reports
Mondal, Amalesh A; Paul, Debarati D; Dastidar, Shubhra Ghosh SG; Saha, Tanima T; Goswami, Achintya Mohan AM
Publication Date: 2022-09-02

Variant appearance in text: 225: T208S
PubMed Link: 36056132
Variant Present in the following documents:
  • 41598_2022_19299_MOESM16_ESM.xlsx, sheet 1
View BVdb publication page



PPVED: A machine learning tool for predicting the effect of single amino acid substitution on protein function in plants.

Plant Biotechnology Journal
Gou, Xiangjian X; Feng, Xuanjun X; Shi, Haoran H; Guo, Tingting T; Xie, Rongqian R; Liu, Yaxi Y; Wang, Qi Q; Li, Hongxiang H; Yang, Banglie B; Chen, Lixue L; Lu, Yanli Y
Publication Date: 2022-07

Variant appearance in text: 225: T208S
PubMed Link: 35398963
Variant Present in the following documents:
  • PBI-20-1417-s006.xls, sheet 1
View BVdb publication page



Embeddings from protein language models predict conservation and variant effects.

Human Genetics
Marquet, Céline C; Heinzinger, Michael M; Olenyi, Tobias T; Dallago, Christian C; Erckert, Kyra K; Bernhofer, Michael M; Nechaev, Dmitrii D; Rost, Burkhard B
Publication Date: 2022-10

Variant appearance in text: 225: T208S
PubMed Link: 34967936
Variant Present in the following documents:
  • 439_2021_2411_MOESM3_ESM.xlsx, sheet 23
View BVdb publication page



Integrative genomic profiling of large-cell neuroendocrine carcinomas reveals distinct subtypes of high-grade neuroendocrine lung tumors.

Nature Communications
George, Julie J; Walter, Vonn V; Peifer, Martin M; Alexandrov, Ludmil B LB; Seidel, Danila D; Leenders, Frauke F; Maas, Lukas L; Müller, Christian C; Dahmen, Ilona I; Delhomme, Tiffany M TM; Ardin, Maude M; Leblay, Noemie N; Byrnes, Graham G; Sun, Ruping R; De Reynies, Aurélien A; McLeer-Florin, Anne A; Bosco, Graziella G; Malchers, Florian F; Menon, Roopika R; Altmüller, Janine J; Becker, Christian C; Nürnberg, Peter P; Achter, Viktor V; Lang, Ulrich U; Schneider, Peter M PM; Bogus, Magdalena M; Soloway, Matthew G MG; Wilkerson, Matthew D MD; Cun, Yupeng Y; McKay, James D JD; Moro-Sibilot, Denis D; Brambilla, Christian G CG; Lantuejoul, Sylvie S; Lemaitre, Nicolas N; Soltermann, Alex A; Weder, Walter W; Tischler, Verena V; Brustugun, Odd Terje OT; Lund-Iversen, Marius M; Helland, Åslaug Å; Solberg, Steinar S; Ansén, Sascha S; Wright, Gavin G; Solomon, Benjamin B; Roz, Luca L; Pastorino, Ugo U; Petersen, Iver I; Clement, Joachim H JH; Sänger, Jörg J; Wolf, Jürgen J; Vingron, Martin M; Zander, Thomas T; Perner, Sven S; Travis, William D WD; Haas, Stefan A SA; Olivier, Magali M; Foll, Matthieu M; Büttner, Reinhard R; Hayes, David Neil DN; Brambilla, Elisabeth E; Fernandez-Cuesta, Lynnette L; Thomas, Roman K RK
Publication Date: 2018-03-13

Variant appearance in text: 225: 622A>T
PubMed Link: 29535388
Variant Present in the following documents:
  • 41467_2018_3099_MOESM8_ESM.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: 622A>T
PubMed Link: 24913145
Variant Present in the following documents:
  • oncotarget-05-2912-s003.xlsx, sheet 1
View BVdb publication page