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DICER1 c.5391G>C ;(p.E1797D)
Variant ID: 14-95557676-C-G
NM_177438.2(
DICER1
):c.5391G>C;(p.E1797D)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma.
British Journal Of Cancer
de Kock, Leanne L; Rivera, Barbara B; Revil, Timothée T; Thorner, Paul P; Goudie, Catherine C; Bouron-Dal Soglio, Dorothée D; Choong, Catherine S CS; Priest, John R JR; van Diest, Paul J PJ; Tanboon, Jantima J; Wagner, Anja A; Ragoussis, Jiannis J; Choong, Peter Fm PF; Foulkes, William D WD
Publication Date: 2017-06-06
Variant appearance in text: DICER1: E1797D
PubMed Link:
28524158
Variant Present in the following documents:
Main text
bjc2017147a.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: E1797D
PubMed Link:
26628006
Variant Present in the following documents:
Main text
View BVdb publication page