TG c.1733T>C ;(p.L578P)

Variant ID: 8-133899350-T-C

NM_003235.4(TG):c.1733T>C;(p.L578P)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology
Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G
Publication Date: 2023-04-22

Variant appearance in text: TG: 1733T>C
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Kras oncogene ablation prevents resistance in advanced lung adenocarcinoma.

The Journal Of Clinical Investigation
Salmón, Marina M; Álvarez-Díaz, Ruth R; Fustero-Torre, Coral C; Brehey, Oksana O; Lechuga, Carmen G CG; Sanclemente, Manuel M; Fernández-García, Fernando F; López-García, Alejandra A; Martín-Guijarro, María Carmen MC; Rodríguez-Perales, Sandra S; Bousquet-Mur, Emily E; Morales-Cacho, Lucía L; Mulero, Francisca F; Al-Shahrour, Fátima F; Martínez, Lola L; Domínguez, Orlando O; Caleiras, Eduardo E; Ortega, Sagrario S; Guerra, Carmen C; Musteanu, Monica M; Drosten, Matthias M; Barbacid, Mariano M
Publication Date: 2023-03-16

Variant appearance in text: TG: 1733T>C
PubMed Link: 36928090
Variant Present in the following documents:
  • jci-133-164413-s193.xlsx, sheet 1
View BVdb publication page



HDAC2 Facilitates Pancreatic Cancer Metastasis.

Cancer Research
Krauß, Lukas L; Urban, Bettina C BC; Hastreiter, Sieglinde S; Schneider, Carolin C; Wenzel, Patrick P; Hassan, Zonera Z; Wirth, Matthias M; Lankes, Katharina K; Terrasi, Andrea A; Klement, Christine C; Cernilogar, Filippo M FM; Öllinger, Rupert R; de Andrade Krätzig, Niklas N; Engleitner, Thomas T; Schmid, Roland M RM; Steiger, Katja K; Rad, Roland R; Krämer, Oliver H OH; Reichert, Maximilian M; Schotta, Gunnar G; Saur, Dieter D; Schneider, Günter G
Publication Date: 2022-02-15

Variant appearance in text: TG: 1733T>C
PubMed Link: 34903606
Variant Present in the following documents:
  • can-20-3209_supplementary_table_3_suppst3.xlsx, sheet 2
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: TG: 1733T>C
PubMed Link: 33115981
Variant Present in the following documents:
  • molce-43-889_Supple.xlsx, sheet 1
View BVdb publication page



Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10

Variant appearance in text: TG: 1733T>C
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
View BVdb publication page



Myophosphorylase (PYGM) mutations determined by next generation sequencing in a cohort from Turkey with McArdle disease.

Neuromuscular Disorders : Nmd
Inal-Gültekin, Güldal G; Toptaş-Hekimoğlu, Bahar B; Görmez, Zeliha Z; Gelişin, Özlem Ö; Durmuş, Hacer H; Ergüner, Bekir B; Demirci, Hüseyin H; Sağıroğlu, Mahmut Ş MŞ; Parman, Yeşim Y; Deymeer, Feza F; Yılmaz-Aydoğan, Hülya H; Pençe, Sadrettin S; Bekircan-Kurt, Can Ebru CE; Tan, Ersin E; Erdem-Özdamar, Sevim S; Üstek, Duran D; Giger, Urs U; Öztürk, Oğuz O; Serdaroğlu-Oflazer, Piraye P
Publication Date: 2017-11

Variant appearance in text: TG: 1733T>C
PubMed Link: 28967462
Variant Present in the following documents:
  • Main text
View BVdb publication page



Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.

Neuromuscular Disorders : Nmd
Savarese, Marco M; Di Fruscio, Giuseppina G; Tasca, Giorgio G; Ruggiero, Lucia L; Janssens, Sandra S; De Bleecker, Jan J; Delpech, Marc M; Musumeci, Olimpia O; Toscano, Antonio A; Angelini, Corrado C; Sacconi, Sabrina S; Santoro, Lucio L; Ricci, Enzo E; Claes, Kathleen K; Politano, Luisa L; Nigro, Vincenzo V
Publication Date: 2015-07

Variant appearance in text: TG: 1733T>C
PubMed Link: 25891276
Variant Present in the following documents:
  • mmc3.xls, sheet 1
View BVdb publication page