RBM20 c.1373G>A ;(p.G458E)

Variant ID: 10-112544134-G-A

NM_001134363.1(RBM20):c.1373G>A;(p.G458E)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: RBM20: 1373G>A; G458E
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Integrative molecular and clinical modeling of clinical outcomes to PD1 blockade in patients with metastatic melanoma.

Nature Medicine
Liu, David D; Schilling, Bastian B; Liu, Derek D; Sucker, Antje A; Livingstone, Elisabeth E; Jerby-Arnon, Livnat L; Zimmer, Lisa L; Gutzmer, Ralf R; Satzger, Imke I; Loquai, Carmen C; Grabbe, Stephan S; Vokes, Natalie N; Margolis, Claire A CA; Conway, Jake J; He, Meng Xiao MX; Elmarakeby, Haitham H; Dietlein, Felix F; Miao, Diana D; Tracy, Adam A; Gogas, Helen H; Goldinger, Simone M SM; Utikal, Jochen J; Blank, Christian U CU; Rauschenberg, Ricarda R; von Bubnoff, Dagmar D; Krackhardt, Angela A; Weide, Benjamin B; Haferkamp, Sebastian S; Kiecker, Felix F; Izar, Ben B; Garraway, Levi L; Regev, Aviv A; Flaherty, Keith K; Paschen, Annette A; Van Allen, Eliezer M EM; Schadendorf, Dirk D
Publication Date: 2019-12

Variant appearance in text: RBM20: 1373G>A
PubMed Link: 31792460
Variant Present in the following documents:
  • 41591_2019_654_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive establishment and characterization of orthoxenograft mouse models of malignant peripheral nerve sheath tumors for personalized medicine.

Embo Molecular Medicine
Castellsagué, Joan J; Gel, Bernat B; Fernández-Rodríguez, Juana J; Llatjós, Roger R; Blanco, Ignacio I; Benavente, Yolanda Y; Pérez-Sidelnikova, Diana D; García-Del Muro, Javier J; Viñals, Joan Maria JM; Vidal, August A; Valdés-Mas, Rafael R; Terribas, Ernest E; López-Doriga, Adriana A; Pujana, Miguel Angel MA; Capellá, Gabriel G; Puente, Xose S XS; Serra, Eduard E; Villanueva, Alberto A; Lázaro, Conxi C
Publication Date: 2015-05

Variant appearance in text: RBM20: G458E
PubMed Link: 25810463
Variant Present in the following documents:
  • emmm0007-0608-sd2.xlsx, sheet 7
View BVdb publication page