CFTR c.1001G>T ;(p.R334L)

Variant ID: 7-117180285-G-T

NM_000492.3(CFTR):c.1001G>T;(p.R334L)

This variant was identified in 14 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: 1001G>T; Arg334Leu
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: R334L
PubMed Link: 36670555
Variant Present in the following documents:
  • children-10-00004.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: R334L
PubMed Link: 35652053
Variant Present in the following documents:
  • Main text
  • fped-10-881470.pdf
View BVdb publication page



Identification of Genetic Risk Factors for Familial Urinary Bladder Cancer: An Exome Sequencing Study.

Jco Precision Oncology
Pemov, Alexander A; Wegman-Ostrosky, Talia T; Kim, Jung J; Koutros, Stella S; Douthitt, Brenna B; Jones, Kristine K; Zhu, Bin B; Baris, Dalsu D; Schwenn, Molly M; Johnson, Alison A; Karagas, Margaret R MR; Carter, Brian D BD; McCullough, Marjorie L ML; Landi, Maria Teresa MT; Freedman, Neal D ND; Albanes, Demetrius D; Silverman, Debra T DT; Rothman, Nathaniel N; Caporaso, Neil E NE; Greene, Mark H MH; Fraumeni, Joseph F JF; Stewart, Douglas R DR
Publication Date: 2021

Variant appearance in text: rs397508137
PubMed Link: 34964002
Variant Present in the following documents:
  • po-5-po.21.00115.pdf
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: rs397508137
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: rs397508137
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: 1001G>T; Arg334Leu; rs397508137
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Liposomes Loaded With Phosphatidylinositol 5-Phosphate Improve the Antimicrobial Response to Pseudomonas aeruginosa in Impaired Macrophages From Cystic Fibrosis Patients and Limit Airway Inflammatory Response.

Frontiers In Immunology
Poerio, Noemi N; De Santis, Federica F; Rossi, Alice A; Ranucci, Serena S; De Fino, Ida I; Henriquez, Ana A; D'Andrea, Marco M MM; Ciciriello, Fabiana F; Lucidi, Vincenzina V; Nisini, Roberto R; Bragonzi, Alessandra A; Fraziano, Maurizio M
Publication Date: 2020

Variant appearance in text: CFTR: R334L
PubMed Link: 33117337
Variant Present in the following documents:
  • Main text
  • fimmu-11-532225.pdf
View BVdb publication page



Trans-heterozygosity for mutations enhances the risk of recurrent/chronic pancreatitis in patients with Cystic Fibrosis.

Molecular Medicine (Cambridge, Mass.)
Sofia, Valentina Maria VM; Surace, Cecilia C; Terlizzi, Vito V; Da Sacco, Letizia L; Alghisi, Federico F; Angiolillo, Antonella A; Braggion, Cesare C; Cirilli, Natalia N; Colombo, Carla C; Di Lullo, Antonella A; Padoan, Rita R; Quattrucci, Serena S; Raia, Valeria V; Tuccio, Giuseppe G; Zarrilli, Federica F; Tomaiuolo, Anna Cristina AC; Novelli, Antonio A; Lucidi, Vincenzina V; Lucarelli, Marco M; Castaldo, Giuseppe G; Angioni, Adriano A
Publication Date: 2018-07-27

Variant appearance in text: CFTR: R334L
PubMed Link: 30134826
Variant Present in the following documents:
  • Main text
  • 10020_2018_Article_41.pdf
View BVdb publication page



Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators.

Jci Insight
Han, Sangwoo T ST; Rab, Andras A; Pellicore, Matthew J MJ; Davis, Emily F EF; McCague, Allison F AF; Evans, Taylor A TA; Joynt, Anya T AT; Lu, Zhongzhou Z; Cai, Zhiwei Z; Raraigh, Karen S KS; Hong, Jeong S JS; Sheppard, David N DN; Sorscher, Eric J EJ; Cutting, Garry R GR
Publication Date: 2018-07-26

Variant appearance in text: CFTR: R334L
PubMed Link: 30046002
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity.

American Journal Of Human Genetics
Raraigh, Karen S KS; Han, Sangwoo T ST; Davis, Emily E; Evans, Taylor A TA; Pellicore, Matthew J MJ; McCague, Allison F AF; Joynt, Anya T AT; Lu, Zhongzhou Z; Atalar, Melis M; Sharma, Neeraj N; Sheridan, Molly B MB; Sosnay, Patrick R PR; Cutting, Garry R GR
Publication Date: 2018-06-07

Variant appearance in text: CFTR: 1001G>T; Arg334Leu
PubMed Link: 29805046
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: 1001G>T; Arg334Leu
PubMed Link: 25910067
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy.

Bmc Medical Genetics
D'Apice, Maria Rosaria MR; Gambardella, Stefano S; Bengala, Mario M; Russo, Silvia S; Nardone, Anna Maria AM; Lucidi, Vincenzina V; Sangiuolo, Federica F; Novelli, Giuseppe G
Publication Date: 2004-04-14

Variant appearance in text: CFTR: R334L
PubMed Link: 15084222
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular determinants and role of an anion binding site in the external mouth of the CFTR chloride channel pore.

The Journal Of Physiology
Gong, Xiandi X; Linsdell, Paul P
Publication Date: 2003-06-01

Variant appearance in text: CFTR: R334L
PubMed Link: 12679372
Variant Present in the following documents:
  • Main text
View BVdb publication page