DICER1 c.5477C>A ;(p.S1826*)

Variant ID: 14-95557590-G-T

NM_177438.2(DICER1):c.5477C>A;(p.S1826*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: 5477C>A
PubMed Link: 29762508
Variant Present in the following documents:
  • Main text
  • cancers-10-00143.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: S1826*
PubMed Link: 26628006
Variant Present in the following documents:
  • Main text
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: 5477C>A; Ser1826*
PubMed Link: 24708902
Variant Present in the following documents:
  • Main text
  • 1752-1947-8-112.pdf
View BVdb publication page