DICER1 c.5330T>A ;(p.L1777H)

Variant ID: 14-95560259-A-T

NM_177438.2(DICER1):c.5330T>A;(p.L1777H)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A Genome-First Approach to Characterize DICER1 Pathogenic Variant Prevalence, Penetrance, and Phenotype.

Jama Network Open
Mirshahi, Uyenlinh L UL; Kim, Jung J; Best, Ana F AF; Chen, Zongming E ZE; Hu, Ying Y; Haley, Jeremy S JS; Golden, Alicia A; Stahl, Richard R; Manickam, Kandamurugu K; Carr, Ann G AG; Harney, Laura A LA; Field, Amanda A; Hatton, Jessica J; Schultz, Kris Ann P KAP; Bauer, Andrew J AJ; Hill, D Ashley DA; Rosenberg, Philip S PS; Murray, Michael F MF; Carey, David J DJ; Stewart, Douglas R DR
Publication Date: 2021-02-01

Variant appearance in text: DICER1: 5330T>A; Leu1777His
PubMed Link: 33630087
Variant Present in the following documents:
  • jamanetwopen-e210112-s001.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: L1777H
PubMed Link: 26628006
Variant Present in the following documents:
  • Main text
View BVdb publication page



DICER1 mutations in childhood cystic nephroma and its relationship to DICER1-renal sarcoma.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Doros, Leslie A LA; Rossi, Christopher T CT; Yang, Jiandong J; Field, Amanda A; Williams, Gretchen M GM; Messinger, Yoav Y; Cajaiba, Mariana M MM; Perlman, Elizabeth J EJ; A Schultz, Kris K; Cathro, Helen P HP; Legallo, Robin D RD; LaFortune, Kristin A KA; Chikwava, Kudakwashe R KR; Faria, Paulo P; Geller, James I JI; Dome, Jeffrey S JS; Mullen, Elizabeth A EA; Gratias, Eric J EJ; Dehner, Louis P LP; Hill, D Ashley DA
Publication Date: 2014-09

Variant appearance in text: DICER1: L1777H
PubMed Link: 24481001
Variant Present in the following documents:
  • Main text
  • modpathol2013242a.pdf
View BVdb publication page