EGR1 c.854_855delinsTT ;(p.S285F)

Variant ID: 5-137802992-CG-TT

NM_001964.2(EGR1):c.854_855delinsTT;(p.S285F)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Epidemiology and genetic characterization of respiratory syncytial virus in children with acute respiratory infections: Findings from the influenza sentinel surveillance network in Central African Republic, 2015 to 2018.

Health Science Reports
Komoyo, Giscard F GF; Yambiyo, Brice M BM; Manirakiza, Alexandre A; Gody, Jean C JC; Muller, Claude P CP; Hübschen, Judith M JM; Nakoune, Emmanuel E; Snoeck, Chantal J CJ
Publication Date: 2021-06

Variant appearance in text: 225: S285F
PubMed Link: 34013070
Variant Present in the following documents:
  • Main text
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: Ser285Phe
PubMed Link: 28202015
Variant Present in the following documents:
  • 12864_2017_3581_MOESM1_ESM.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: S285F
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.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: S285F
PubMed Link: 24913145
Variant Present in the following documents:
  • oncotarget-05-2912-s003.xlsx, sheet 1
View BVdb publication page



Core structure of the U6 small nuclear ribonucleoprotein at 1.7-Å resolution.

Nature Structural & Molecular Biology
Montemayor, Eric J EJ; Curran, Elizabeth C EC; Liao, Hong Hong HH; Andrews, Kristie L KL; Treba, Christine N CN; Butcher, Samuel E SE; Brow, David A DA
Publication Date: 2014-06

Variant appearance in text: 225: S285F
PubMed Link: 24837192
Variant Present in the following documents:
  • NIHMS590626-supplement-2.pdf
View BVdb publication page



Deriving a mutation index of carcinogenicity using protein structure and protein interfaces.

Plos One
Espinosa, Octavio O; Mitsopoulos, Konstantinos K; Hakas, Jarle J; Pearl, Frances F; Zvelebil, Marketa M
Publication Date: 2014

Variant appearance in text: 225: S285F
PubMed Link: 24454733
Variant Present in the following documents:
  • pone.0084598.s028.xls, sheet 1
View BVdb publication page