DOT1L c.4422C>A ;(p.F1474L)

Variant ID: 19-2226942-C-A

NM_032482.2(DOT1L):c.4422C>A;(p.F1474L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Multimodal treatment with curative intent in a germline BRCA2 mutant metastatic ampullary adenocarcinoma: a case report.

World Journal Of Surgical Oncology
Mauri, Gianluca G; Gori, Viviana V; Patelli, Giorgio G; Roazzi, Laura L; Rizzetto, Francesco F; De Carlis, Luciano L; Mariani, Anna A; Cavallari, Ugo U; Prada, Elisabetta E; Cipani, Tiziana T; Aquilano, Maria Costanza MC; Bonoldi, Emanuela E; Vanzulli, Angelo A; Siena, Salvatore S; Sartore-Bianchi, Andrea A
Publication Date: 2023-03-31

Variant appearance in text: DOT1L: F1474L
PubMed Link: 36998040
Variant Present in the following documents:
  • 12957_2023_Article_2976.pdf
View BVdb publication page



SMARCA4-Deficient Thoracic Sarcomatoid Tumors Represent Primarily Smoking-Related Undifferentiated Carcinomas Rather Than Primary Thoracic Sarcomas.

Journal Of Thoracic Oncology : Official Publication Of The International Association For The Study Of Lung Cancer
Rekhtman, Natasha N; Montecalvo, Joseph J; Chang, Jason C JC; Alex, Deepu D; Ptashkin, Ryan N RN; Ai, Ni N; Sauter, Jennifer L JL; Kezlarian, Brie B; Jungbluth, Achim A; Desmeules, Patrice P; Beras, Amanda A; Bishop, Justin A JA; Plodkowski, Andrew J AJ; Gounder, Mrinal M MM; Schoenfeld, Adam J AJ; Namakydoust, Azadeh A; Li, Bob T BT; Rudin, Charles M CM; Riely, Gregory J GJ; Jones, David R DR; Ladanyi, Marc M; Travis, William D WD
Publication Date: 2020-02

Variant appearance in text: DOT1L: 4422C>A; F1474L
PubMed Link: 31751681
Variant Present in the following documents:
  • NIHMS1547998-supplement-1.xlsx, sheet 7
View BVdb publication page