DICER1 c.3647C>A ;(p.S1216*)

Variant ID: 14-95570086-G-T

NM_177438.2(DICER1):c.3647C>A;(p.S1216*)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Ovarian Sertoli-Leydig Cell Tumor, Multinodular Goiter, Cystic Nephromas and DICER1 Mutations: Case Report and Literature Review.

Pharmacogenomics And Personalized Medicine
Ni, Yanglin Y; Zhou, Xuan X; Wu, Ling L; Wu, Ping P; Liu, Ying Y; Li, Yinnan Y; Cai, Li L; Fu, Xueshu X; Zhang, Chunhua C
Publication Date: 2021

Variant appearance in text: DICER1: 3647C>A
PubMed Link: 34377011
Variant Present in the following documents:
  • Main text
  • pgpm-14-947.pdf
View BVdb publication page



Spectrum of DICER1 Germline Pathogenic Variants in Ovarian Sertoli-Leydig Cell Tumor.

Journal Of Clinical Medicine
De Paolis, Elisa E; Paragliola, Rosa Maria RM; Concolino, Paola P
Publication Date: 2021-04-23

Variant appearance in text: Dicer: 3647C>A
PubMed Link: 33922805
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: S1216*
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



DICER1 Syndrome: DICER1 Mutations in Rare Cancers.

Cancers
Robertson, Jake C JC; Jorcyk, Cheryl L CL; Oxford, Julia Thom JT
Publication Date: 2018-05-15

Variant appearance in text: DICER1: 3647C>A
PubMed Link: 29762508
Variant Present in the following documents:
  • Main text
  • cancers-10-00143.pdf
View BVdb publication page



A novel DICER1 mutation identified in a female with ovarian Sertoli-Leydig cell tumor and multinodular goiter: a case report.

Journal Of Medical Case Reports
Rossing, Maria M; Gerdes, Anne-Marie AM; Juul, Anders A; Rechnitzer, Catherine C; Rudnicki, Martin M; Nielsen, Finn C FC; Vo Hansen, Thomas T
Publication Date: 2014-04-03

Variant appearance in text: DICER1: 3647C>A; Ser1216*
PubMed Link: 24708902
Variant Present in the following documents:
  • Main text
  • 1752-1947-8-112.pdf
View BVdb publication page