CFTR c.2042A>T ;(p.E681V)

Variant ID: 7-117232263-A-T

NM_000492.3(CFTR):c.2042A>T;(p.E681V)

This variant was identified in 14 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: CFTR: 2042A>T; Glu681Val
PubMed Link: 36923788
Variant Present in the following documents:
  • Table3.xlsx, sheet 1
View BVdb publication page



Correlation between CFTR variants and outcomes of ART in patients with CAVD in Central China.

Scientific Reports
Qu, Xiaowei X; Li, Lingyi L; Cui, Chenchen C; Feng, Ke K; Xia, Yanqing Y; Wan, Feng F; Zhang, Cuilian C; Guo, Haibin H
Publication Date: 2023-01-05

Variant appearance in text: CFTR: 2042A>T; Glu681Val
PubMed Link: 36604502
Variant Present in the following documents:
  • 41598_2022_26384_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Genetic spectrum of Chinese children with cystic fibrosis: comprehensive data analysis from the main referral centre in China.

Journal Of Medical Genetics
Shen, Yuelin Y; Tang, Xiaolei X; Chen, Qionghua Q; Xu, Hui H; Liu, Hui H; Liu, Jinrong J; Yang, Haiming H; Li, Huimin H; Zhao, Shunying S
Publication Date: 2022-07-20

Variant appearance in text: CFTR: 2042A>T; Glu681Val
PubMed Link: 35858753
Variant Present in the following documents:
  • Main text
  • jmg-2022-108501supp001.pdf
  • jmg-2022-108501.pdf
View BVdb publication page



Correlation Analysis of Genotypes and Phenotypes in Chinese Male Pediatric Patients With Congenital Hypogonadotropic Hypogonadism.

Frontiers In Endocrinology
Wang, Yi Y; Qin, Miao M; Fan, Lijun L; Gong, Chunxiu C
Publication Date: 2022

Variant appearance in text: CFTR: 2042A>T; Glu681Val
PubMed Link: 35669683
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.

Orphanet Journal Of Rare Diseases
Ni, Qi Q; Chen, Xiang X; Zhang, Ping P; Yang, Lin L; Lu, Yulan Y; Xiao, Feifan F; Wu, Bingbing B; Wang, Huijun H; Zhou, Wenhao W; Dong, Xinran X
Publication Date: 2022-03-21

Variant appearance in text: CFTR: 2042A>T; Glu681Val; rs201295415
PubMed Link: 35313924
Variant Present in the following documents:
  • Main text
  • 13023_2022_Article_2279.pdf
  • 13023_2022_2279_MOESM1_ESM.xls, sheet 1
View BVdb publication page



The Application of Whole-Exome Sequencing in Patients With FUO.

Frontiers In Cellular And Infection Microbiology
Guo, Wanru W; Feng, Xuewen X; Hu, Ming M; Shangguan, Yanwan Y; Xia, Jiafeng J; Hu, Wenjuan W; Li, Xiaomeng X; Zhang, Zunjing Z; Shi, Yunzhen Y; Xu, Kaijin K
Publication Date: 2021

Variant appearance in text: CFTR: 2042A>T
PubMed Link: 35096640
Variant Present in the following documents:
  • Main text
  • fcimb-11-783568.pdf
View BVdb publication page



Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)
Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI
Publication Date: 2020

Variant appearance in text: rs201295415
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.

Plos Genetics
Yu, Mullin Ho Chung MHC; Chan, Marcus Chun Yin MCY; Chung, Claudia Ching Yan CCY; Li, Andrew Wang Tat AWT; Yip, Chara Yin Wa CYW; Mak, Christopher Chun Yu CCY; Chau, Jeffrey Fong Ting JFT; Lee, Mianne M; Fung, Jasmine Lee Fong JLF; Tsang, Mandy Ho Yin MHY; Chan, Joshua Chun Ki JCK; Wong, Wilfred Hing Sang WHS; Yang, Jing J; Chui, William Chun Ming WCM; Chung, Patrick Ho Yu PHY; Yang, Wanling W; Lee, So Lun SL; Chan, Godfrey Chi Fung GCF; Tam, Paul Kwong Hang PKH; Lau, Yu Lung YL; Tang, Clara Sze Man CSM; Yeung, Kit San KS; Chung, Brian Hon Yin BHY
Publication Date: 2021-02

Variant appearance in text: rs201295415
PubMed Link: 33600428
Variant Present in the following documents:
  • pgen.1009323.s010.xlsx, sheet 1
View BVdb publication page



Next-generation sequencing for identifying genetic mutations in adults with bronchiectasis.

Journal Of Thoracic Disease
Guan, Wei-Jie WJ; Li, Jia-Cheng JC; Liu, Fang F; Zhou, Jian J; Liu, Ya-Ping YP; Ling, Chao C; Gao, Yong-Hua YH; Li, Hui-Min HM; Yuan, Jing-Jing JJ; Huang, Yan Y; Chen, Chun-Lan CL; Chen, Rong-Chang RC; Zhang, Xue X; Zhong, Nan-Shan NS
Publication Date: 2018-05

Variant appearance in text: CFTR: 2042A>T; E681V; rs201295415
PubMed Link: 29997923
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole-exome sequencing reveals genetic variants in ERC1 and KCNG4 associated with complete hydatidiform mole in Chinese Han women.

Oncotarget
Yu, Yan Y; Lu, Bingjian B; Lu, Weiguo W; Li, Shuang S; Li, Xiuqin X; Wang, Xinyu X; Wan, Xiaoyun X; Chen, Yaxia Y; Feng, Suwen S; Jia, Yao Y; Yang, Ru R; Tang, Fangxu F; Li, Xiong X; Zhang, Shulan S; Wang, Xinyan X; Wei, Heng H; Peng, Zhilan Z; Lu, Lin L; Zhong, Huizhen H; Zhao, Linjun L; Huang, Zhangqian Z; Lin, Lin L; Shen, Weihong W; Lu, Yan Y; Cao, Zhu Z; Zou, Jian J; Ma, Yuejiang Y; Chen, Xiaojing X; Tian, Qifang Q; Lu, Shiming S; Liu, Pengyuan P; Ma, Ding D; Xie, Xing X; Cheng, Xiaodong X
Publication Date: 2017-09-26

Variant appearance in text: CFTR: E681V
PubMed Link: 29088863
Variant Present in the following documents:
  • oncotarget-08-75264-s003.xls, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: CFTR: 2042A>T; E681V
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Familial clustering of pulmonary nontuberculous mycobacterial disease.

Chest
Colombo, Rhonda E RE; Hill, Suvimol C SC; Claypool, Reginald J RJ; Holland, Steven M SM; Olivier, Kenneth N KN
Publication Date: 2010-03

Variant appearance in text: CFTR: E681V
PubMed Link: 19858235
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pulmonary nontuberculous mycobacterial disease: prospective study of a distinct preexisting syndrome.

American Journal Of Respiratory And Critical Care Medicine
Kim, Richard D RD; Greenberg, David E DE; Ehrmantraut, Mary E ME; Guide, Shireen V SV; Ding, Li L; Shea, Yvonne Y; Brown, Margaret R MR; Chernick, Milica M; Steagall, Wendy K WK; Glasgow, Connie G CG; Lin, JingPing J; Jolley, Clara C; Sorbara, Lynn L; Raffeld, Mark M; Hill, Suvimol S; Avila, Nilo N; Sachdev, Vandana V; Barnhart, Lisa A LA; Anderson, Victoria L VL; Claypool, Reginald R; Hilligoss, Dianne M DM; Garofalo, Mary M; Fitzgerald, Alan A; Anaya-O'Brien, Sandra S; Darnell, Dirk D; DeCastro, Rosamma R; Menning, Heather M HM; Ricklefs, Stacy M SM; Porcella, Stephen F SF; Olivier, Kenneth N KN; Moss, Joel J; Holland, Steven M SM
Publication Date: 2008-11-15

Variant appearance in text: CFTR: E681V
PubMed Link: 18703788
Variant Present in the following documents:
  • Main text
View BVdb publication page