DICER1 c.4102C>T ;(p.R1368C)

Variant ID: 14-95566221-G-A

NM_177438.2(DICER1):c.4102C>T;(p.R1368C)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Tumor genomic profiling and personalized tracking of circulating tumor DNA in Vietnamese colorectal cancer patients.

Frontiers In Oncology
Nguyen, Huu Thinh HT; Nguyen, Trieu Vu TV; Nguyen Hoang, Van-Anh VA; Tran, Duc Huy DH; Le Trinh, Ngoc An NA; Le, Minh Triet MT; Nguyen Tran, Tuan-Anh TA; Pham, Thanh Huyen TH; Dinh, Thi Cuc TC; Nguyen, Tien Sy TS; Nguyen The, Ky Cuong KC; Mai, Hoa H; Chu, Minh Tuan MT; Pham, Dinh Hoang DH; Nguyen, Xuan Chi XC; Ngo Ha, Thien My TM; Nguyen, Duy Sinh DS; Nguyen, Du Quyen DQ; Lu, Y-Thanh YT; Do Thi, Thanh Thuy TT; Truong, Dinh Kiet DK; Nguyen, Quynh Tho QT; Nguyen, Hoai-Nghia HN; Giang, Hoa H; Tu, Lan N LN
Publication Date: 2022

Variant appearance in text: DICER1: R1368C
PubMed Link: 36578946
Variant Present in the following documents:
  • DataSheet_2.xlsx, sheet 1
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: 4102C>T; Arg1368Cys
PubMed Link: 33630087
Variant Present in the following documents:
  • jamanetwopen-e210112-s001.pdf
View BVdb publication page



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: DICER1: 4102C>T; R1368C
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: DICER1: R1368C
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
View BVdb publication page



Frequent alterations in cytoskeleton remodelling genes in primary and metastatic lung adenocarcinomas.

Nature Communications
Wu, Kui K; Zhang, Xin X; Li, Fuqiang F; Xiao, Dakai D; Hou, Yong Y; Zhu, Shida S; Liu, Dongbing D; Ye, Xiaofei X; Ye, Mingzhi M; Yang, Jie J; Shao, Libin L; Pan, Hui H; Lu, Na N; Yu, Yuan Y; Liu, Liping L; Li, Jin J; Huang, Liyan L; Tang, Hailing H; Deng, Qiuhua Q; Zheng, Yue Y; Peng, Lihua L; Liu, Geng G; Gu, Xia X; He, Ping P; Gu, Yingying Y; Lin, Weixuan W; He, Huiming H; Xie, Guoyun G; Liang, Han H; An, Na N; Wang, Hui H; Teixeira, Manuel M; Vieira, Joana J; Liang, Wenhua W; Zhao, Xin X; Peng, Zhiyu Z; Mu, Feng F; Zhang, Xiuqing X; Xu, Xun X; Yang, Huanming H; Kristiansen, Karsten K; Wang, Jian J; Zhong, Nanshan N; Wang, Jun J; Pan-Hammarström, Qiang Q; He, Jianxing J
Publication Date: 2015-12-09

Variant appearance in text: DICER1: R1368C
PubMed Link: 26647728
Variant Present in the following documents:
  • ncomms10131-s8.xlsx, sheet 1
View BVdb publication page



Recurrent DGCR8, DROSHA, and SIX homeodomain mutations in favorable histology Wilms tumors.

Cancer Cell
Walz, Amy L AL; Ooms, Ariadne A; Gadd, Samantha S; Gerhard, Daniela S DS; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Guidry Auvil, Jamie M JM; Meerzaman, Daoud D; Chen, Qing-Rong QR; Hsu, Chih Hao CH; Yan, Chunhua C; Nguyen, Cu C; Hu, Ying Y; Bowlby, Reanne R; Brooks, Denise D; Ma, Yussanne Y; Mungall, Andrew J AJ; Moore, Richard A RA; Schein, Jacqueline J; Marra, Marco A MA; Huff, Vicki V; Dome, Jeffrey S JS; Chi, Yueh-Yun YY; Mullighan, Charles G CG; Ma, Jing J; Wheeler, David A DA; Hampton, Oliver A OA; Jafari, Nadereh N; Ross, Nicole N; Gastier-Foster, Julie M JM; Perlman, Elizabeth J EJ
Publication Date: 2015-02-09

Variant appearance in text: DICER1: R1368C
PubMed Link: 25670082
Variant Present in the following documents:
  • Main text
View BVdb publication page