CFTR c.377G>A ;(p.G126D)

Variant ID: 7-117171056-G-A

NM_000492.3(CFTR):c.377G>A;(p.G126D)

This variant was identified in 15 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: CFTR: 377G>A; Gly126Asp
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Organoid Technology and Its Role for Theratyping Applications in Cystic Fibrosis.

Children (Basel, Switzerland)
Conti, Jessica J; Sorio, Claudio C; Melotti, Paola P
Publication Date: 2022-12-20

Variant appearance in text: CFTR: G126D
PubMed Link: 36670555
Variant Present in the following documents:
  • children-10-00004.pdf
View BVdb publication page



Impact of Pancreatitis-Associated Protein on Newborn Screening Outcomes and Detection of CFTR-Related Metabolic Syndrome (CRMS)/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A Monocentric Prospective Pilot Experience.

International Journal Of Neonatal Screening
Bianchimani, Chiara C; Dolce, Daniela D; Centrone, Claudia C; Campana, Silvia S; Ravenni, Novella N; Orioli, Tommaso T; Camera, Erica E; Mergni, Gianfranco G; Fevola, Cristina C; Bonomi, Paolo P; Taccetti, Giovanni G; Terlizzi, Vito V
Publication Date: 2022-08-03

Variant appearance in text: CFTR: G126D
PubMed Link: 35997436
Variant Present in the following documents:
  • IJNS-08-00046.pdf
View BVdb publication page



Translational Research in Cystic Fibrosis: From Bench to Beside.

Frontiers In Pediatrics
Garcia, Laura de Castro E LCE; Petry, Lucas Montiel LM; Germani, Pedro Augusto Van Der Sand PAVS; Xavier, Luiza Fernandes LF; de Barros, Paula Barros PB; Meneses, Amanda da Silva ADS; Prestes, Laura Menestrino LM; Bittencourt, Luana Braga LB; Pieta, Marina Puerari MP; Friedrich, Frederico F; Pinto, Leonardo Araújo LA
Publication Date: 2022

Variant appearance in text: CFTR: G126D
PubMed Link: 35652053
Variant Present in the following documents:
  • Main text
  • fped-10-881470.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: rs397508609
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



Two Years of Newborn Screening for Cystic Fibrosis in North Macedonia: First Experience.

Balkan Journal Of Medical Genetics : Bjmg
Fustik, S S; Anastasovska, V V; Plaseska-Karanfilska, D D; Stamatova, A A; Spirevska, L L; Pesevska, M M; Terzikj, M M; Vujovic, M M
Publication Date: 2021-06

Variant appearance in text: CFTR: 377G>A; G126D
PubMed Link: 34447658
Variant Present in the following documents:
  • Main text
  • bjmg-24-041.pdf
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: 377G>A; Gly126Asp; rs397508609
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Dehydrated patient without clinically evident cause: A case report.

World Journal Of Clinical Cases
Palladino, Federica F; Fedele, Maria Cristina MC; Casertano, Marianna M; Liguori, Laura L; Esposito, Tiziana T; Guarino, Stefano S; Miraglia Del Giudice, Emanuele E; Marzuillo, Pierluigi P
Publication Date: 2020-10-26

Variant appearance in text: CFTR: G126D
PubMed Link: 33195651
Variant Present in the following documents:
  • Main text
  • WJCC-8-4838.pdf
View BVdb publication page



Clinical and Genotypical Features of False-Negative Patients in 26 Years of Cystic Fibrosis Neonatal Screening in Tuscany, Italy.

Diagnostics (Basel, Switzerland)
Taccetti, Giovanni G; Botti, Matteo M; Terlizzi, Vito V; Cavicchi, Maria Chiara MC; Neri, Anna Silvia AS; Galici, Valeria V; Mergni, Gianfranco G; Centrone, Claudia C; Peroni, Diego G DG; Festini, Filippo F
Publication Date: 2020-07-01

Variant appearance in text: CFTR: G126D
PubMed Link: 32630227
Variant Present in the following documents:
  • diagnostics-10-00446.pdf
View BVdb publication page



Cystic Fibrosis Mutation Spectrum in North Macedonia: A Step Toward Personalized Therapy.

Balkan Journal Of Medical Genetics : Bjmg
Terzic, M M; Jakimovska, M M; Fustik, S S; Jakovska, T T; Sukarova-Stefanovska, E E; Plaseska-Karanfilska, D D
Publication Date: 2019-06

Variant appearance in text: CFTR: G126D
PubMed Link: 31523618
Variant Present in the following documents:
  • Main text
  • bjmg-22-035.pdf
View BVdb publication page



Benign and Deleterious Cystic Fibrosis Transmembrane Conductance Regulator Mutations Identified by Sequencing in Positive Cystic Fibrosis Newborn Screen Children from California.

Plos One
Salinas, Danieli B DB; Sosnay, Patrick R PR; Azen, Colleen C; Young, Suzanne S; Raraigh, Karen S KS; Keens, Thomas G TG; Kharrazi, Martin M
Publication Date: 2016

Variant appearance in text: CFTR: G126D
PubMed Link: 27214204
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis.

Molecular Medicine (Cambridge, Mass.)
Lucarelli, Marco M; Bruno, Sabina Maria SM; Pierandrei, Silvia S; Ferraguti, Giampiero G; Stamato, Antonella A; Narzi, Fabiana F; Amato, Annalisa A; Cimino, Giuseppe G; Bertasi, Serenella S; Quattrucci, Serena S; Strom, Roberto R
Publication Date: 2015-04-21

Variant appearance in text: CFTR: 377G>A; G126D
PubMed Link: 25910067
Variant Present in the following documents:
  • Main text
View BVdb publication page



Influence of Pathogenic Mutations on the Energetics of Translocon-Mediated Bilayer Integration of Transmembrane Helices.

The Journal Of Membrane Biology
Schlebach, Jonathan P JP; Sanders, Charles R CR
Publication Date: 2015-06

Variant appearance in text: CFTR: G126D
PubMed Link: 25192979
Variant Present in the following documents:
  • Main text
View BVdb publication page



Bithiazole correctors rescue CFTR mutants by two different mechanisms.

Biochemistry
Loo, Tip W TW; Bartlett, M Claire MC; Clarke, David M DM
Publication Date: 2013-08-06

Variant appearance in text: CFTR: G126D
PubMed Link: 23865422
Variant Present in the following documents:
  • Main text
  • bi4008758.pdf
View BVdb publication page



Progression of pulmonary hyperinflation and trapped gas associated with genetic and environmental factors in children with cystic fibrosis.

Respiratory Research
Kraemer, Richard R; Baldwin, David N DN; Ammann, Roland A RA; Frey, Urs U; Gallati, Sabina S
Publication Date: 2006-11-30

Variant appearance in text: CFTR: G126D
PubMed Link: 17137500
Variant Present in the following documents:
  • 1465-9921-7-138.pdf
View BVdb publication page