DICER1 c.5326C>T ;(p.Q1776*)

Variant ID: 14-95560263-G-A

NM_177438.2(DICER1):c.5326C>T;(p.Q1776*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.

Nature Medicine
Razavi, Pedram P; Li, Bob T BT; Brown, David N DN; Jung, Byoungsok B; Hubbell, Earl E; Shen, Ronglai R; Abida, Wassim W; Juluru, Krishna K; De Bruijn, Ino I; Hou, Chenlu C; Venn, Oliver O; Lim, Raymond R; Anand, Aseem A; Maddala, Tara T; Gnerre, Sante S; Vijaya Satya, Ravi R; Liu, Qinwen Q; Shen, Ling L; Eattock, Nicholas N; Yue, Jeanne J; Blocker, Alexander W AW; Lee, Mark M; Sehnert, Amy A; Xu, Hui H; Hall, Megan P MP; Santiago-Zayas, Angie A; Novotny, William F WF; Isbell, James M JM; Rusch, Valerie W VW; Plitas, George G; Heerdt, Alexandra S AS; Ladanyi, Marc M; Hyman, David M DM; Jones, David R DR; Morrow, Monica M; Riely, Gregory J GJ; Scher, Howard I HI; Rudin, Charles M CM; Robson, Mark E ME; Diaz, Luis A LA; Solit, David B DB; Aravanis, Alexander M AM; Reis-Filho, Jorge S JS
Publication Date: 2019-12

Variant appearance in text: DICER1: 5326C>T
PubMed Link: 31768066
Variant Present in the following documents:
  • NIHMS1541314-supplement-1541314_Sup_Tab.xlsx, sheet 4
  • NIHMS1541314-supplement-1541314_SourceDataFig1.xlsx, sheet 4
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Cancer-associated mutations in DICER1 RNase IIIa and IIIb domains exert similar effects on miRNA biogenesis.

Nature Communications
Vedanayagam, Jeffrey J; Chatila, Walid K WK; Aksoy, Bülent Arman BA; Majumdar, Sonali S; Skanderup, Anders Jacobsen AJ; Demir, Emek E; Schultz, Nikolaus N; Sander, Chris C; Lai, Eric C EC
Publication Date: 2019-08-15

Variant appearance in text: DICER1: Q1776*
PubMed Link: 31417090
Variant Present in the following documents:
  • 41467_2019_11610_MOESM5_ESM.xlsx, sheet 1
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Response to MET inhibitors in patients with stage IV lung adenocarcinomas harboring MET mutations causing exon 14 skipping.

Cancer Discovery
Paik, Paul K PK; Drilon, Alexander A; Fan, Pang-Dian PD; Yu, Helena H; Rekhtman, Natasha N; Ginsberg, Michelle S MS; Borsu, Laetitia L; Schultz, Nikolaus N; Berger, Michael F MF; Rudin, Charles M CM; Ladanyi, Marc M
Publication Date: 2015-08

Variant appearance in text: DICER1: Q1776X
PubMed Link: 25971939
Variant Present in the following documents:
  • Main text
View BVdb publication page