NUP214 c.2222G>T ;(p.R741L)

Variant ID: 9-134026097-G-T

NM_005085.3(NUP214):c.2222G>T;(p.R741L)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Frontiers In Genetics
Huang, Yanlin Y; Liu, Chang C; Ding, Hongke H; Wang, Yunan Y; Yu, Lihua L; Guo, Fangfang F; Li, Fake F; Shi, Xiaomei X; Zhang, Yan Y; Yin, Aihua A
Publication Date: 2023

Variant appearance in text: NUP214: 2222G>T; Arg741Leu
PubMed Link: 36923788
Variant Present in the following documents:
  • Table3.xlsx, sheet 1
View BVdb publication page



Genetic trajectory and clonal evolution of multiple primary lung cancer with lymph node metastasis.

Cancer Gene Therapy
Tian, He H; Wang, Yalong Y; Yang, Zhenlin Z; Chen, Ping P; Xu, Jiachen J; Tian, Yanhua Y; Fan, Tao T; Xiao, Chu C; Bai, Guangyu G; Li, Lin L; Zheng, Bo B; Li, Chunxiang C; He, Jie J
Publication Date: 2023-01-19

Variant appearance in text: NUP214: R741L
PubMed Link: 36653483
Variant Present in the following documents:
  • 41417_2022_572_MOESM2_ESM.xlsx, sheet 1
  • 41417_2022_572_MOESM9_ESM.xlsx, sheet 8
View BVdb publication page



Dualistic classification of high grade serous ovarian carcinoma has its root in spatial heterogeneity.

Journal Of Advanced Research
Sun, Tingting T; Zhang, Zuwei Z; Tian, Liming L; Zheng, Yu Y; Wu, Linxiang L; Guo, Yunyun Y; Li, Xiaohui X; Li, Yuanyuan Y; Shen, Hongwei H; Lai, Yingrong Y; Liu, Junfeng J; Cui, Huanhuan H; He, Shasha S; Ren, Yufeng Y; Yang, Guofen G
Publication Date: 2022-08-28

Variant appearance in text: NUP214: R741L
PubMed Link: 36038111
Variant Present in the following documents:
  • mmc2.xlsx, sheet 3
View BVdb publication page



Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A
Publication Date: 2022-08-15

Variant appearance in text: rs117680443
PubMed Link: 35653148
Variant Present in the following documents:
  • ccr-21-3189_supplementary_tables_ts1-9_suppts1-9.xlsx, sheet 5
View BVdb publication page



Clinical Characteristics and Pathogenic Gene Identification in Chinese Patients With Paget's Disease of Bone.

Frontiers In Endocrinology
Tao, Xiaohui X; Liu, Li L; Yang, Xingguang X; Wei, Zhe Z; Chen, Zhongzhong Z; Zhang, Ge G; Zhang, Zhenlin Z; Yue, Hua H
Publication Date: 2022

Variant appearance in text: NUP214: 2222G>T; Arg741Leu
PubMed Link: 35355568
Variant Present in the following documents:
  • Main text
  • fendo-13-850462.pdf
View BVdb publication page



Genomic Profiling on an Unselected Solid Tumor Population Reveals a Highly Mutated Wnt/β-Catenin Pathway Associated with Oncogenic EGFR Mutations.

Journal Of Personalized Medicine
Jiang, Jingrui J; Protopopov, Alexei A; Sun, Ruobai R; Lyle, Stephen S; Russell, Meaghan M
Publication Date: 2018-04-09

Variant appearance in text: NUP214: R741L
PubMed Link: 29642553
Variant Present in the following documents:
  • Main text
  • jpm-08-00013.pdf
View BVdb publication page