DICER1 c.184G>A ;(p.V62I)

Variant ID: 14-95598975-C-T

NM_177438.2(DICER1):c.184G>A;(p.V62I)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


An EGFR L858R mutation identified in 1862 Chinese NSCLC patients can be a promising neoantigen vaccine therapeutic strategy.

Frontiers In Immunology
Lin, Jing J; Liu, Jun J; Hao, Shi-Guang SG; Lan, Bin B; Zheng, Xiao-Bin XB; Xiong, Jia-Ni JN; Zhang, Ying-Qian YQ; Gao, Xuan X; Chen, Chuan-Ben CB; Chen, Ling L; Huang, Yu-Fang YF; Luo, Hong H; Yi, Yu-Ting YT; Yi, Xin X; Lu, Jian-Ping JP; Zheng, Xiong-Wei XW; Chen, Gang G; Wang, Xue-Feng XF; Chen, Yu Y
Publication Date: 2022

Variant appearance in text: DICER1: 184G>A; V62I
PubMed Link: 36505399
Variant Present in the following documents:
  • Table_2.xlsx, sheet 2
View BVdb publication page



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: 184G>A; Val62Ile
PubMed Link: 33630087
Variant Present in the following documents:
  • jamanetwopen-e210112-s001.pdf
View BVdb publication page



Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?

Frontiers In Endocrinology
Martínez de LaPiscina, Idoia I; Hernández-Ramírez, Laura C LC; Portillo, Nancy N; Gómez-Gila, Ana L AL; Urrutia, Inés I; Martínez-Salazar, Rosa R; García-Castaño, Alejandro A; Aguayo, Aníbal A; Rica, Itxaso I; Gaztambide, Sonia S; Faucz, Fabio R FR; Keil, Margaret F MF; Lodish, Maya B MB; Quezado, Martha M; Pankratz, Nathan N; Chittiboina, Prashant P; Lane, John J; Kay, Denise M DM; Mills, James L JL; Castaño, Luis L; Stratakis, Constantine A CA
Publication Date: 2020

Variant appearance in text: DICER1: 184G>A; V62I; rs746671039
PubMed Link: 32714280
Variant Present in the following documents:
  • Main text
  • fendo-11-00433.pdf
View BVdb publication page



TAPES: A tool for assessment and prioritisation in exome studies.

Plos Computational Biology
Xavier, Alexandre A; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA
Publication Date: 2019-10

Variant appearance in text: DICER1: V62I; rs746671039
PubMed Link: 31613886
Variant Present in the following documents:
  • pcbi.1007453.s004.xlsx, sheet 2
  • pcbi.1007453.s002.xlsx, sheet 1
View BVdb publication page