EGF c.148T>C ;(p.F50L)

Variant ID: 4-110862122-T-C

NM_001963.4(EGF):c.148T>C;(p.F50L)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Epigenetic Reprogramming via Synergistic Hypomethylation and Hypoxia Enhances the Therapeutic Efficacy of Mesenchymal Stem Cell Extracellular Vesicles for Bone Repair.

International Journal Of Molecular Sciences
Man, Kenny K; Brunet, Mathieu Y MY; Lees, Rebecca R; Peacock, Ben B; Cox, Sophie C SC
Publication Date: 2023-04-20

Variant appearance in text: EGF: F50L
PubMed Link: 37108726
Variant Present in the following documents:
  • Main text
  • ijms-24-07564.pdf
View BVdb publication page



Case Report: The novel hemizygous mutation in the SSR4 gene caused congenital disorder of glycosylation type iy: A case study and literature review.

Frontiers In Genetics
Wang, Jun J; Gou, Xingqing X; Wang, Xiyi X; Zhang, Jing J; Zhao, Nan N; Wang, Xiaohong X
Publication Date: 2022

Variant appearance in text: EGF: 148T>C
PubMed Link: 36386804
Variant Present in the following documents:
  • Table1.xls, sheet 3
  • Table1.xls, sheet 2
View BVdb publication page



Diagnostic and prognostic potential of the proteomic profiling of serum-derived extracellular vesicles in prostate cancer.

Cell Death & Disease
Signore, Michele M; Alfonsi, Romina R; Federici, Giulia G; Nanni, Simona S; Addario, Antonio A; Bertuccini, Lucia L; Aiello, Aurora A; Di Pace, Anna Laura AL; Sperduti, Isabella I; Muto, Giovanni G; Giacobbe, Alessandro A; Collura, Devis D; Brunetto, Lidia L; Simone, Giuseppe G; Costantini, Manuela M; Crinò, Lucio L; Rossi, Stefania S; Tabolacci, Claudio C; Diociaiuti, Marco M; Merlino, Tania T; Gallucci, Michele M; Sentinelli, Steno S; Papalia, Rocco R; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2021-06-21

Variant appearance in text: EGF: F50L
PubMed Link: 34155195
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28

Variant appearance in text: EGF: F50L
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 55
View BVdb publication page



TRIAD3/RNF216 E3 ligase specifically synthesises K63-linked ubiquitin chains and is inactivated by mutations associated with Gordon Holmes syndrome.

Cell Death Discovery
Schwintzer, Lukas L; Aguado Roca, Eva E; Broemer, Meike M
Publication Date: 2019

Variant appearance in text: EGF: F50L
PubMed Link: 30886743
Variant Present in the following documents:
  • 41420_2019_Article_158.pdf
View BVdb publication page



Etoposide-loaded immunoliposomes as active targeting agents for GD2-positive malignancies.

Cancer Biology & Therapy
Brown, Brandon S BS; Patanam, Tariq T; Mobli, Keyan K; Celia, Christian C; Zage, Peter E PE; Bean, Andrew J AJ; Tasciotti, Ennio E
Publication Date: 2014-07

Variant appearance in text: EGF: F50L
PubMed Link: 24755919
Variant Present in the following documents:
  • Main text
View BVdb publication page



Nek family of kinases in cell cycle, checkpoint control and cancer.

Cell Division
Moniz, Larissa L; Dutt, Previn P; Haider, Nasir N; Stambolic, Vuk V
Publication Date: 2011-10-31

Variant appearance in text: EGF: F50L
PubMed Link: 22040655
Variant Present in the following documents:
  • Main text
  • 1747-1028-6-18.pdf
View BVdb publication page



Inter-conversion of neuregulin2 full and partial agonists for ErbB4.

Biochemical And Biophysical Research Communications
Wilson, Kristy J KJ; Mill, Christopher P CP; Cameron, Elizabeth M EM; Hobbs, Stuart S SS; Hammer, Robert P RP; Riese, David J DJ
Publication Date: 2007-12-14

Variant appearance in text: EGF: F50L
PubMed Link: 17945187
Variant Present in the following documents:
  • Main text
View BVdb publication page