DICER1 c.5425G>T ;(p.G1809W)

Variant ID: 14-95557642-C-A

NM_177438.2(DICER1):c.5425G>T;(p.G1809W)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Phase and context shape the function of composite oncogenic mutations.

Nature
Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS
Publication Date: 2020-06

Variant appearance in text: DICER1: G1809W
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



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: G1809W
PubMed Link: 31417090
Variant Present in the following documents:
  • 41467_2019_Article_11610.pdf
View BVdb publication page



Dysregulation of microRNA biogenesis machinery in cancer.

Critical Reviews In Biochemistry And Molecular Biology
Hata, Akiko A; Kashima, Risa R
Publication Date: 2016

Variant appearance in text: Dicer: G1809W
PubMed Link: 26628006
Variant Present in the following documents:
  • Main text
View BVdb publication page



The many faces of Dicer: the complexity of the mechanisms regulating Dicer gene expression and enzyme activities.

Nucleic Acids Research
Kurzynska-Kokorniak, Anna A; Koralewska, Natalia N; Pokornowska, Maria M; Urbanowicz, Anna A; Tworak, Aleksander A; Mickiewicz, Agnieszka A; Figlerowicz, Marek M
Publication Date: 2015-05-19

Variant appearance in text: DICER1: G1809W
PubMed Link: 25883138
Variant Present in the following documents:
  • supp_gkv328_nar-03037-survey-d-2014-File005.pdf
View BVdb publication page



Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations.

Acta Neuropathologica
de Kock, Leanne L; Sabbaghian, Nelly N; Plourde, François F; Srivastava, Archana A; Weber, Evan E; Bouron-Dal Soglio, Dorothée D; Hamel, Nancy N; Choi, Joon Hyuk JH; Park, Sung-Hye SH; Deal, Cheri L CL; Kelsey, Megan M MM; Dishop, Megan K MK; Esbenshade, Adam A; Kuttesch, John F JF; Jacques, Thomas S TS; Perry, Arie A; Leichter, Heinz H; Maeder, Philippe P; Brundler, Marie-Anne MA; Warner, Justin J; Neal, James J; Zacharin, Margaret M; Korbonits, Márta M; Cole, Trevor T; Traunecker, Heidi H; McLean, Thomas W TW; Rotondo, Fabio F; Lepage, Pierre P; Albrecht, Steffen S; Horvath, Eva E; Kovacs, Kalman K; Priest, John R JR; Foulkes, William D WD
Publication Date: 2014-07

Variant appearance in text: DICER1: 5425G>T; Gly1809Trp
PubMed Link: 24839956
Variant Present in the following documents:
  • Main text
View BVdb publication page