DNMT3A c.1717_1725del ;(p.Q573_A575del)

Variant ID: 2-25467149-TGGCTGCCTG-T

NM_022552.4(DNMT3A):c.1717_1725del;(p.Q573_A575del)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Late Onset of Chronic Granulomatous Disease Revealed by Paecilomyces lilacinus Cutaneous Infection.

Journal Of Clinical Immunology
Lemaigre, Clément C; Suarez, Felipe F; Martellosio, Jean-Philippe JP; Barbarin, Cindy C; Brunet, Kévin K; Chomel, Jean Claude JC; Hainaut, Ewa E; Rammaert, Blandine B; Roblot, France F; Torregrosa-Diaz, José Miguel JM
Publication Date: 2022-01

Variant appearance in text: DNMT3A: Gln573_Ala575del
PubMed Link: 34596815
Variant Present in the following documents:
  • Main text
  • 10875_2021_Article_1140.pdf
View BVdb publication page



Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.

Nature Communications
Witkiewicz, Agnieszka K AK; McMillan, Elizabeth A EA; Balaji, Uthra U; Baek, GuemHee G; Lin, Wan-Chi WC; Mansour, John J; Mollaee, Mehri M; Wagner, Kay-Uwe KU; Koduru, Prasad P; Yopp, Adam A; Choti, Michael A MA; Yeo, Charles J CJ; McCue, Peter P; White, Michael A MA; Knudsen, Erik S ES
Publication Date: 2015-04-09

Variant appearance in text: DNMT3A: A572_A574del
PubMed Link: 25855536
Variant Present in the following documents:
  • ncomms7744-s2.xlsx, sheet 1
View BVdb publication page