DICER1 c.5013G>C ;(p.K1671N)

Variant ID: 14-95562244-C-G

NM_177438.2(DICER1):c.5013G>C;(p.K1671N)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01

Variant appearance in text: DICER1: K1671N
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
View BVdb publication page



Analyzing the Role of DICER1 Germline Variations in Papillary Thyroid Carcinoma.

European Thyroid Journal
Canberk, Sule S; Ferreira, Joana C JC; Pereira, Luísa L; Batısta, Rui R; Vieira, Andre F AF; Soares, Paula P; Sobrinho Simões, Manuel M; Máximo, Valdemar V
Publication Date: 2021-02

Variant appearance in text: DICER1: 5013G>C; Lys1671Asn
PubMed Link: 33718253
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: K1671N
PubMed Link: 31417090
Variant Present in the following documents:
  • 41467_2019_11610_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page