EGR1 c.487_488inv ;(p.S163L)

Variant ID: 5-137802625-AG-CT

NM_001964.2(EGR1):c.487_488inv;(p.S163L)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Protein phase separation: A novel therapy for cancer?

British Journal Of Pharmacology
Wang, Wei W; Chen, Yingqian Y; Xu, Aixiao A; Cai, Minyi M; Cao, Ji J; Zhu, Hong H; Yang, Bo B; Shao, Xuejing X; Ying, Meidan M; He, Qiaojun Q
Publication Date: 2020-11

Variant appearance in text: 225: S163L
PubMed Link: 32851637
Variant Present in the following documents:
  • Main text
View BVdb publication page



De Novo Damaging Variants, Clinical Phenotypes, and Post-Operative Outcomes in Congenital Heart Disease.

Circulation. Genomic And Precision Medicine
Boskovski, Marko T MT; Homsy, Jason J; Nathan, Meena M; Sleeper, Lynn A LA; Morton, Sarah S; Manheimer, Kathryn B KB; Tai, Angela A; Gorham, Joshua J; Lewis, Matthew M; Swartz, Michael M; Alfieris, George M GM; Bacha, Emile A EA; Karimi, Mohsen M; Meyer, David D; Nguyen, Khanh K; Bernstein, Daniel D; Romano-Adesman, Angela A; Porter, George A GA; Goldmuntz, Elizabeth E; Chung, Wendy K WK; Srivastava, Deepak D; Kaltman, Jonathan R JR; Tristani-Firouzi, Martin M; Lifton, Richard R; Roberts, Amy E AE; Gaynor, J William JW; Gelb, Bruce D BD; Kim, Richard R; Seidman, Jonathan G JG; Brueckner, Martina M; Mayer, John E JE; Newburger, Jane W JW; Seidman, Christine E CE
Publication Date: 2020-08

Variant appearance in text: 225: S163L
PubMed Link: 32812804
Variant Present in the following documents:
  • hcg-13-e002836-s001.pdf
View BVdb publication page



A unique cytoplasmic ATPase complex defines the Legionella pneumophila type IV secretion channel.

Nature Microbiology
Chetrit, David D; Hu, Bo B; Christie, Peter J PJ; Roy, Craig R CR; Liu, Jun J
Publication Date: 2018-06

Variant appearance in text: 225: S163L
PubMed Link: 29784975
Variant Present in the following documents:
  • NIHMS961346-supplement-1.pdf
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: Ser163Leu
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: S163L
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 1
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
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: S163L
PubMed Link: 24913145
Variant Present in the following documents:
  • oncotarget-05-2912-s003.xlsx, sheet 1
View BVdb publication page