DICER1 c.2041-91A>G

Variant ID: 14-95578675-T-C

NM_177438.2(DICER1):c.2041-91A>G

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-25

Variant appearance in text: rs2297730
PubMed Link: 36966136
Variant Present in the following documents:
  • 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Integrated proteogenomic characterization across major histological types of pituitary neuroendocrine tumors.

Cell Research
Zhang, Fan F; Zhang, Qilin Q; Zhu, Jiajun J; Yao, Boyuan B; Ma, Chi C; Qiao, Nidan N; He, Shiman S; Ye, Zhao Z; Wang, Yunzhi Y; Han, Rui R; Feng, Jinwen J; Wang, Yongfei Y; Qin, Zhaoyu Z; Ma, Zengyi Z; Li, Kai K; Zhang, Yichao Y; Tian, Sha S; Chen, Zhengyuan Z; Tan, Subei S; Wu, Yue Y; Ran, Peng P; Wang, Ye Y; Ding, Chen C; Zhao, Yao Y
Publication Date: 2022-12

Variant appearance in text: rs2297730
PubMed Link: 36307579
Variant Present in the following documents:
  • 41422_2022_736_MOESM10_ESM.xlsx, sheet 3
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: DICER1: 2041-91A>G; rs2297730
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: DICER1: 2041-91A>G; rs2297730
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs2297730
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Germ-line DICER1 mutations do not make a major contribution to the etiology of familial testicular germ cell tumours.

Bmc Research Notes
Sabbaghian, Nelly N; Bahubeshi, Amin A; Shuen, Andrew Y AY; Kanetsky, Peter A PA; Tischkowitz, Marc D MD; Nathanson, Katherine L KL; Foulkes, William D WD
Publication Date: 2013-04-01

Variant appearance in text: DICER1: 2041-91A>G; rs2297730
PubMed Link: 23547758
Variant Present in the following documents:
  • Main text
  • 1756-0500-6-127.pdf
View BVdb publication page



Inherited polymorphisms in the RNA-mediated interference machinery affect microRNA expression and lung cancer survival.

British Journal Of Cancer
Rotunno, M M; Zhao, Y Y; Bergen, A W AW; Koshiol, J J; Burdette, L L; Rubagotti, M M; Linnoila, R I RI; Marincola, F M FM; Bertazzi, P A PA; Pesatori, A C AC; Caporaso, N E NE; McShane, L M LM; Wang, E E; Landi, M T MT
Publication Date: 2010-12-07

Variant appearance in text: rs2297730
PubMed Link: 21102586
Variant Present in the following documents:
  • Main text
  • 6605976a.pdf
View BVdb publication page