EGR1 c.1040_1041delinsAA ;(p.R347Q)

Variant ID: 5-137803178-GC-AA

NM_001964.2(EGR1):c.1040_1041delinsAA;(p.R347Q)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


The genomic landscape of pediatric renal cell carcinomas.

Iscience
Beck, Pengbo P; Selle, Barbara B; Madenach, Lukas L; Jones, David T W DTW; Vokuhl, Christian C; Gopisetty, Apurva A; Nabbi, Arash A; Brecht, Ines B IB; Ebinger, Martin M; Wegert, Jenny J; Graf, Norbert N; Gessler, Manfred M; Pfister, Stefan M SM; Jäger, Natalie N
Publication Date: 2022-04-15

Variant appearance in text: 225: R347Q
PubMed Link: 35445187
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.

Cell Stem Cell
Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K
Publication Date: 2022-03-03

Variant appearance in text: 225: R347Q
PubMed Link: 35176222
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



A Multipronged Approach Establishes Covalent Modification of β-Tubulin as the Mode of Action of Benzamide Anti-cancer Toxins.

Journal Of Medicinal Chemistry
Povedano, Juan Manuel JM; Rallabandi, Rameshu R; Bai, Xin X; Ye, Xuecheng X; Liou, Joel J; Chen, Hong H; Kim, Jiwoong J; Xie, Yang Y; Posner, Bruce B; Rice, Luke L; De Brabander, Jef K JK; McFadden, David G DG
Publication Date: 2020-11-25

Variant appearance in text: 225: Arg347Gln
PubMed Link: 33180487
Variant Present in the following documents:
  • jm0c01482_si_002.xlsx, sheet 1
View BVdb publication page



K-Ras-Activated Cells Can Develop into Lung Tumors When Runx3-Mediated Tumor Suppressor Pathways Are Abrogated.

Molecules And Cells
Lee, You-Soub YS; Lee, Ja-Yeol JY; Song, Soo-Hyun SH; Kim, Da-Mi DM; Lee, Jung-Won JW; Chi, Xin-Zi XZ; Ito, Yoshiaki Y; Bae, Suk-Chul SC
Publication Date: 2020-10-31

Variant appearance in text: 225: Arg347Gln
PubMed Link: 33115981
Variant Present in the following documents:
  • molce-43-889_Supple.xlsx, sheet 1
View BVdb publication page



UVB-induced nuclear translocation of TC-PTP by AKT/14-3-3σ axis inhibits keratinocyte survival and proliferation.

Oncotarget
Kim, Mihwa M; Morales, Liza D LD; Baek, Minwoo M; Slaga, Thomas J TJ; DiGiovanni, John J; Kim, Dae Joon DJ
Publication Date: 2017-10-31

Variant appearance in text: 225: R347Q
PubMed Link: 29207596
Variant Present in the following documents:
  • Main text
  • oncotarget-08-90674.pdf
View BVdb publication page



Identification and analysis of mutational hotspots in oncogenes and tumour suppressors.

Oncotarget
Baeissa, Hanadi H; Benstead-Hume, Graeme G; Richardson, Christopher J CJ; Pearl, Frances M G FMG
Publication Date: 2017-03-28

Variant appearance in text: 225: R347Q
PubMed Link: 28423505
Variant Present in the following documents:
  • oncotarget-08-21290-s007.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: R347Q
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 1
View BVdb publication page