EGR1 c.124_125inv ;(p.S42L)

Variant ID: 5-137801574-AG-CT

NM_001964.2(EGR1):c.124_125inv;(p.S42L)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Genomic Landscape of RTK/RAS Pathway and Tumor Immune Infiltration as Prognostic Indicator of Lung Adenocarcinoma.

Frontiers In Oncology
Yin, Xiang-Qian XQ; Yin, Xue-Hui XH; Yu, Ya-Qin YQ; Xu, Lang L; Zhang, Mao M
Publication Date: 2022

Variant appearance in text: 225: Ser42Leu
PubMed Link: 35936718
Variant Present in the following documents:
  • Table_4.xlsx, sheet 2
View BVdb publication page



Accurate positioning of functional residues with robotics-inspired computational protein design.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Krivacic, Cody C; Kundert, Kale K; Pan, Xingjie X; Pache, Roland A RA; Liu, Lin L; ConchĂșir, Shane O SO; Jeliazkov, Jeliazko R JR; Gray, Jeffrey J JJ; Thompson, Michael C MC; Fraser, James S JS; Kortemme, Tanja T
Publication Date: 2022-03-15

Variant appearance in text: 225: S42L
PubMed Link: 35254891
Variant Present in the following documents:
  • pnas.2115480119.sapp.pdf
View BVdb publication page



Experimental and pan-cancer genome analyses reveal widespread contribution of acrylamide exposure to carcinogenesis in humans.

Genome Research
Zhivagui, Maria M; Ng, Alvin W T AWT; Ardin, Maude M; Churchwell, Mona I MI; Pandey, Manuraj M; Renard, Claire C; Villar, Stephanie S; Cahais, Vincent V; Robitaille, Alexis A; Bouaoun, Liacine L; Heguy, Adriana A; Guyton, Kathryn Z KZ; Stampfer, Martha R MR; McKay, James J; Hollstein, Monica M; Olivier, Magali M; Rozen, Steven G SG; Beland, Frederick A FA; Korenjak, Michael M; Zavadil, Jiri J
Publication Date: 2019-04

Variant appearance in text: 225: S42L
PubMed Link: 30846532
Variant Present in the following documents:
  • supp_gr.242453.118_Supplemental_Tables_S1_S13.xlsx, sheet 3
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: S42L
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
View BVdb publication page