DICER1 c.3072G>A ;(p.W1024*)

Variant ID: 14-95572036-C-T

NM_177438.2(DICER1):c.3072G>A;(p.W1024*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Cancer-associated mutations in DICER1 RNase IIIa and IIIb domains exert similar effects on miRNA biogenesis.

Nature Communications
Vedanayagam, Jeffrey J; Chatila, Walid K WK; Aksoy, Bülent Arman BA; Majumdar, Sonali S; Skanderup, Anders Jacobsen AJ; Demir, Emek E; Schultz, Nikolaus N; Sander, Chris C; Lai, Eric C EC
Publication Date: 2019-08-15

Variant appearance in text: DICER1: W1024*
PubMed Link: 31417090
Variant Present in the following documents:
  • 41467_2019_11610_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



miR-31 functions as a negative regulator of lymphatic vascular lineage-specific differentiation in vitro and vascular development in vivo.

Molecular And Cellular Biology
Pedrioli, Deena M Leslie DM; Karpanen, Terhi T; Dabouras, Vasilios V; Jurisic, Giorgia G; van de Hoek, Glenn G; Shin, Jay W JW; Marino, Daniela D; Kälin, Roland E RE; Leidel, Sebastian S; Cinelli, Paolo P; Schulte-Merker, Stefan S; Brändli, André W AW; Detmar, Michael M
Publication Date: 2010-07

Variant appearance in text: Dicer: W1024X
PubMed Link: 20479124
Variant Present in the following documents:
  • Main text
View BVdb publication page