CP c.1057C>T ;(p.Q353*)

Variant ID: 3-148924106-G-A

NM_000096.3(CP):c.1057C>T;(p.Q353*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Persistent mutation burden drives sustained anti-tumor immune responses.

Nature Medicine
Niknafs, Noushin N; Balan, Archana A; Cherry, Christopher C; Hummelink, Karlijn K; Monkhorst, Kim K; Shao, Xiaoshan M XM; Belcaid, Zineb Z; Marrone, Kristen A KA; Murray, Joseph J; Smith, Kellie N KN; Levy, Benjamin B; Feliciano, Josephine J; Hann, Christine L CL; Lam, Vincent V; Pardoll, Drew M DM; Karchin, Rachel R; Seiwert, Tanguy Y TY; Brahmer, Julie R JR; Forde, Patrick M PM; Velculescu, Victor E VE; Anagnostou, Valsamo V
Publication Date: 2023-01-26

Variant appearance in text: CP: Q353*
PubMed Link: 36702947
Variant Present in the following documents:
  • 41591_2022_2163_MOESM3_ESM.xlsx, sheet 14
View BVdb publication page



WTX R353X mutation in a family with osteopathia striata and cranial sclerosis (OS-CS): case report and literature review of the disease clinical, genetic and radiological features.

Italian Journal Of Pediatrics
Zicari, Anna Maria AM; Tarani, Luigi L; Perotti, Daniela D; Papetti, Laura L; Nicita, Francesco F; Liberati, Natascia N; Spalice, Alberto A; Salvatori, Guglielmo G; Guaraldi, Federica F; Duse, Marzia M
Publication Date: 2012-06-20

Variant appearance in text: CP: 1057C>T
PubMed Link: 22716240
Variant Present in the following documents:
View BVdb publication page