DICER1 c.5114A>T ;(p.E1705V)

Variant ID: 14-95560475-T-A

NM_177438.2(DICER1):c.5114A>T;(p.E1705V)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


PRAME protein expression in DICER1-related tumours.

The Journal Of Pathology. Clinical Research
Thorner, Paul S PS; Chong, Anne-Sophie AS; Nadaf, Javad J; Benlimame, Naciba N; Marrano, Paula P; Chami, Rose R; Fu, Lili L; Foulkes, William D WD
Publication Date: 2022-11

Variant appearance in text: DICER1: 5114A>T; Glu1705Val
PubMed Link: 35986592
Variant Present in the following documents:
  • CJP2-8-579.pdf
View BVdb publication page



PRAME protein expression in DICER1-related tumours.

The Journal Of Pathology. Clinical Research
Thorner, Paul S PS; Chong, Anne-Sophie AS; Nadaf, Javad J; Benlimame, Naciba N; Marrano, Paula P; Chami, Rose R; Fu, Lili L; Foulkes, William D WD
Publication Date: 2022-05

Variant appearance in text: DICER1: 5114A>T; Glu1705Val
PubMed Link: 35297207
Variant Present in the following documents:
  • CJP2-8-294-s001.pdf
View BVdb publication page



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: 5114A>T
PubMed Link: 34377011
Variant Present in the following documents:
  • Main text
  • pgpm-14-947.pdf
View BVdb publication page



DICER1 screening in 15 paediatric paratesticular sarcomas unveils an unusual DICER1-associated sarcoma.

The Journal Of Pathology. Clinical Research
Apellaniz-Ruiz, Maria M; Cullinan, Noelle N; Grant, Ronald R; Marrano, Paula P; Priest, John R JR; Thorner, Paul S PS; Goudie, Catherine C; Foulkes, William D WD
Publication Date: 2020-07

Variant appearance in text: DICER1: E1705V
PubMed Link: 32222066
Variant Present in the following documents:
  • Main text
  • CJP2-6-185.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: E1705V
PubMed Link: 26628006
Variant Present in the following documents:
  • Main text
View BVdb publication page