DICER1 c.5438A>T ;(p.E1813V)

Variant ID: 14-95557629-T-A

NM_177438.2(DICER1):c.5438A>T;(p.E1813V)

This variant was identified in 9 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: 5438A>T; Glu1813Val
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: 5438A>T; Glu1813Val
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: 5438A>T
PubMed Link: 34377011
Variant Present in the following documents:
  • Main text
  • pgpm-14-947.pdf
View BVdb publication page



Gene mutations in Cushing's disease.

Biomedical Reports
Xiong, Qi Q; Ge, Wei W
Publication Date: 2016-09

Variant appearance in text: DICER1: E1813V
PubMed Link: 27588171
Variant Present in the following documents:
  • Main text
View BVdb publication page



PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.

Plos Computational Biology
Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J
Publication Date: 2016-05

Variant appearance in text: DICER1: E1813V
PubMed Link: 27224906
Variant Present in the following documents:
  • pcbi.1004962.s005.xlsx, sheet 3
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: E1813V
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: E1813V
PubMed Link: 25883138
Variant Present in the following documents:
  • supp_gkv328_nar-03037-survey-d-2014-File005.pdf
View BVdb publication page



DICER1-pleuropulmonary blastoma familial tumor predisposition syndrome: a unique constellation of neoplastic conditions.

Pathology Case Reviews
Schultz, Kris Ann KA; Yang, Jiandong J; Doros, Leslie L; Williams, Gretchen M GM; Harris, Anne A; Stewart, Douglas R DR; Messinger, Yoav Y; Field, Amanda A; Dehner, Louis P LP; Hill, D Ashley DA
Publication Date: 2014-03

Variant appearance in text: DICER1: 5438A>T
PubMed Link: 25356068
Variant Present in the following documents:
  • Main text
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: 5438A>T; Glu1813Val
PubMed Link: 24839956
Variant Present in the following documents:
  • Main text
View BVdb publication page