EGFR c.1839C>G ;(p.A613=)

Variant ID: 7-55233089-C-G

NM_005228.3(EGFR):c.1839C>G;(p.A613=)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Decellularized extracellular matrix as scaffold for cancer organoid cultures of colorectal peritoneal metastases.

Journal Of Molecular Cell Biology
Varinelli, Luca L; Guaglio, Marcello M; Brich, Silvia S; Zanutto, Susanna S; Belfiore, Antonino A; Zanardi, Federica F; Iannelli, Fabio F; Oldani, Amanda A; Costa, Elisa E; Chighizola, Matteo M; Lorenc, Ewelina E; Minardi, Simone P SP; Fortuzzi, Stefano S; Filugelli, Martina M; Garzone, Giovanna G; Pisati, Federica F; Vecchi, Manuela M; Pruneri, Giancarlo G; Kusamura, Shigeki S; Baratti, Dario D; Cattaneo, Laura L; Parazzoli, Dario D; Podestà, Alessandro A; Milione, Massimo M; Deraco, Marcello M; Pierotti, Marco A MA; Gariboldi, Manuela M
Publication Date: 2022-12-02

Variant appearance in text: EGFR: A613A
PubMed Link: 36460033
Variant Present in the following documents:
  • mjac064_supplemental_file.pdf
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: EGFR: A613A
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: EGFR: A613A
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Genetic variants of the EGFR ligand-binding domain and their association with structural alterations in Arab cancer patients.

Bmc Research Notes
Marzouq, Maryam M; Nairouz, Ali A; Ben Khalaf, Noureddine N; Bourguiba-Hachemi, Sonia S; Quaddorah, Raed R; Ashoor, Dana D; Fathallah, M Dahmani MD
Publication Date: 2021-04-19

Variant appearance in text: EGFR: A613A
PubMed Link: 33874989
Variant Present in the following documents:
  • 13104_2021_5559_MOESM2_ESM.pdf
View BVdb publication page



Acute Radiation Colitis after Preoperative Short-Course Radiotherapy for Rectal Cancer: A Morphological, Immunohistochemical and Genetic Study.

Cancers
Zanelli, Magda M; Ciarrocchi, Alessia A; De Petris, Giovanni G; Zizzo, Maurizio M; Costantini, Massimo M; Bisagni, Alessandra A; Torricelli, Federica F; Nicoli, Davide D; Ramundo, Dafne D; Ricci, Stefano S; Palicelli, Andrea A; Sanguedolce, Francesca F; Ascani, Stefano S; Castro Ruiz, Carolina C; Annessi, Valerio V; Zamponi, Raffaella R; Bortesi, Mara M; Martino, Veronica V; Marchetti, Marialisa M; De Marco, Loredana L
Publication Date: 2020-09-09

Variant appearance in text: EGFR: Ala613Ala
PubMed Link: 32917028
Variant Present in the following documents:
  • cancers-12-02571-s001.pdf
View BVdb publication page



Sequencing and phasing cancer mutations in lung cancers using a long-read portable sequencer.

Dna Research : An International Journal For Rapid Publication Of Reports On Genes And Genomes
Suzuki, Ayako A; Suzuki, Mizuto M; Mizushima-Sugano, Junko J; Frith, Martin C MC; Makalowski, Wojciech W; Kohno, Takashi T; Sugano, Sumio S; Tsuchihara, Katsuya K; Suzuki, Yutaka Y
Publication Date: 2017-12-01

Variant appearance in text: EGFR: A613A
PubMed Link: 29117310
Variant Present in the following documents:
  • supplementary_data_dsx027.pdf
View BVdb publication page