CFTR c.2936A>C ;(p.D979A)

Variant ID: 7-117246755-A-C

NM_000492.3(CFTR):c.2936A>C;(p.D979A)

This variant was identified in 19 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: CFTR: D979A
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
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: 2936A>C; Asp979Ala
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: 2936A>C; Asp979Ala
PubMed Link: 35858753
Variant Present in the following documents:
  • Main text
  • jmg-2022-108501supp001.pdf
  • jmg-2022-108501.pdf
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: 2936A>C; D979A
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



Frequency of allele variations in the CFTR gene in a Mexican population.

Bmc Medical Genomics
Cantú-Reyna, Consuelo C; Galindo-Ramírez, Roberto R; Vázquez-Cantú, Mercedes M; Haddad-Talancón, Lorenza L; García-Muñoz, Willebaldo W
Publication Date: 2021-11-05

Variant appearance in text: rs397508462
PubMed Link: 34740355
Variant Present in the following documents:
  • 12920_2021_1111_MOESM1_ESM.xlsx, sheet 1
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: rs397508462
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02

Variant appearance in text: CFTR: 2936A>C; Asp979Ala; rs397508462
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: CFTR: 2936A>C; Asp979Ala; rs397508462
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine
Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y
Publication Date: 2019-07

Variant appearance in text: CFTR: 2936A>C; Asp979Ala
PubMed Link: 31165590
Variant Present in the following documents:
  • MGG3-7-e00748-s004.xlsx, sheet 1
View BVdb publication page



The first case report of double homozygous of 2 different mutations in the CFTR gene in Saudi Arabia.

International Journal Of Pediatrics & Adolescent Medicine
Banjar, Hanaa H; Moghrabi, Nabil N; Alotaibi, Tariq T; Alotaibi, Sami S; Gamalmaz, Hisham H
Publication Date: 2017-03

Variant appearance in text: CFTR: D979A
PubMed Link: 30805499
Variant Present in the following documents:
  • Main text
  • main.pdf
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: 2936A>C; D979A; rs397508462
PubMed Link: 29997923
Variant Present in the following documents:
  • Main text
View BVdb publication page



Targeted sequencing reveals complex, phenotype-correlated genotypes in cystic fibrosis.

Bmc Medical Genomics
Ivanov, Maxim M; Matsvay, Alina A; Glazova, Olga O; Krasovskiy, Stanislav S; Usacheva, Mariya M; Amelina, Elena E; Chernyak, Aleksandr A; Ivanov, Mikhail M; Musienko, Sergey S; Prodanov, Timofey T; Kovalenko, Sergey S; Baranova, Ancha A; Khafizov, Kamil K
Publication Date: 2018-02-13

Variant appearance in text: CFTR: D979A
PubMed Link: 29504914
Variant Present in the following documents:
  • 12920_2018_Article_328.pdf
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs397508462
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Human Genetics
Cooper, David N DN; Krawczak, Michael M; Polychronakos, Constantin C; Tyler-Smith, Chris C; Kehrer-Sawatzki, Hildegard H
Publication Date: 2013-10

Variant appearance in text: CFTR: Asp979Ala
PubMed Link: 23820649
Variant Present in the following documents:
  • Main text
  • 439_2013_Article_1331.pdf
View BVdb publication page



Regulation of activation and processing of the cystic fibrosis transmembrane conductance regulator (CFTR) by a complex electrostatic interaction between the regulatory domain and cytoplasmic loop 3.

The Journal Of Biological Chemistry
Wang, Guangyu G; Duan, Dayue Darrel DD
Publication Date: 2012-11-23

Variant appearance in text: CFTR: D979A
PubMed Link: 23060444
Variant Present in the following documents:
  • Main text
View BVdb publication page



Role of the juxtamembrane region of cytoplasmic loop 3 in the gating and conductance of the cystic fibrosis transmembrane conductance regulator chloride channel.

Biochemistry
El Hiani, Yassine Y; Linsdell, Paul P
Publication Date: 2012-05-15

Variant appearance in text: CFTR: D979A
PubMed Link: 22545782
Variant Present in the following documents:
  • Main text
  • bi300065z.pdf
View BVdb publication page



COMMD1-mediated ubiquitination regulates CFTR trafficking.

Plos One
Drévillon, Loïc L; Tanguy, Gaëlle G; Hinzpeter, Alexandre A; Arous, Nicole N; de Becdelièvre, Alix A; Aissat, Abdel A; Tarze, Agathe A; Goossens, Michel M; Fanen, Pascale P
Publication Date: 2011-03-31

Variant appearance in text: CFTR: D979A
PubMed Link: 21483833
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutations that permit residual CFTR function delay acquisition of multiple respiratory pathogens in CF patients.

Respiratory Research
Green, Deanna M DM; McDougal, Kathryn E KE; Blackman, Scott M SM; Sosnay, Patrick R PR; Henderson, Lindsay B LB; Naughton, Kathleen M KM; Collaco, J Michael JM; Cutting, Garry R GR
Publication Date: 2010-10-08

Variant appearance in text: CFTR: D979A
PubMed Link: 20932301
Variant Present in the following documents:
  • Main text
  • 1465-9921-11-140.pdf
View BVdb publication page



Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials.

American Journal Of Respiratory And Critical Care Medicine
Wilschanski, Michael M; Dupuis, Annie A; Ellis, Lynda L; Jarvi, Keith K; Zielenski, Julian J; Tullis, Elizabeth E; Martin, Sheelagh S; Corey, Mary M; Tsui, Lap-Chee LC; Durie, Peter P
Publication Date: 2006-10-01

Variant appearance in text: CFTR: D979A
PubMed Link: 16840743
Variant Present in the following documents:
  • Main text
View BVdb publication page