CFTR c.3080T>C ;(p.I1027T)

Variant ID: 7-117250664-T-C

NM_000492.3(CFTR):c.3080T>C;(p.I1027T)

This variant was identified in 35 publications

View GRCh38 version.




Publications:


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: I1027T
PubMed Link: 36670555
Variant Present in the following documents:
  • children-10-00004.pdf
View BVdb publication page



Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes.

Cells
Baldassarri, Margherita M; Zguro, Kristina K; Tomati, Valeria V; Pastorino, Cristina C; Fava, Francesca F; Croci, Susanna S; Bruttini, Mirella M; Picchiotti, Nicola N; Furini, Simone S; Gen-Covid Multicenter Study, ; Pedemonte, Nicoletta N; Gabbi, Chiara C; Renieri, Alessandra A; Fallerini, Chiara C
Publication Date: 2022-12-16

Variant appearance in text: CFTR: I1027T
PubMed Link: 36552859
Variant Present in the following documents:
  • Main text
  • cells-11-04096.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: I1027T
PubMed Link: 35652053
Variant Present in the following documents:
  • Main text
  • fped-10-881470.pdf
View BVdb publication page



Author Correction: Spatial covariance analysis reveals the residue-by-residue thermodynamic contribution of variation to the CFTR fold.

Communications Biology
Anglès, Frédéric F; Wang, Chao C; Balch, William E WE
Publication Date: 2022-05-18

Variant appearance in text: CFTR: I1027T
PubMed Link: 35585144
Variant Present in the following documents:
  • 42003_2022_3457_MOESM1_ESM.pdf
View BVdb publication page



Spatial covariance analysis reveals the residue-by-residue thermodynamic contribution of variation to the CFTR fold.

Communications Biology
Anglès, Frédéric F; Wang, Chao C; Balch, William E WE
Publication Date: 2022-04-13

Variant appearance in text: CFTR: I1027T
PubMed Link: 35418593
Variant Present in the following documents:
  • 42003_2022_Article_3302.pdf
View BVdb publication page



The L467F-F508del Complex Allele Hampers Pharmacological Rescue of Mutant CFTR by Elexacaftor/Tezacaftor/Ivacaftor in Cystic Fibrosis Patients: The Value of the Ex Vivo Nasal Epithelial Model to Address Non-Responders to CFTR-Modulating Drugs.

International Journal Of Molecular Sciences
Sondo, Elvira E; Cresta, Federico F; Pastorino, Cristina C; Tomati, Valeria V; Capurro, Valeria V; Pesce, Emanuela E; Lena, Mariateresa M; Iacomino, Michele M; Baffico, Ave Maria AM; Coviello, Domenico D; Bandiera, Tiziano T; Zara, Federico F; Galietta, Luis J V LJV; Bocciardi, Renata R; Castellani, Carlo C; Pedemonte, Nicoletta N
Publication Date: 2022-03-15

Variant appearance in text: CFTR: I1027T
PubMed Link: 35328596
Variant Present in the following documents:
  • Main text
  • ijms-23-03175.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: 3080T>C; Ile1027Thr; rs1800112
PubMed Link: 35313924
Variant Present in the following documents:
  • 13023_2022_2279_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Forskolin-induced organoid swelling is associated with long-term cystic fibrosis disease progression.

The European Respiratory Journal
Muilwijk, Danya D; de Poel, Eyleen E; van Mourik, Peter P; Suen, Sylvia W F SWF; Vonk, Annelotte M AM; Brunsveld, Jesse E JE; Kruisselbrink, Evelien E; Oppelaar, Hugo H; Hagemeijer, Marne C MC; Berkers, Gitte G; de Winter-de Groot, Karin M KM; Heida-Michel, Sabine S; Jans, Stephan R SR; van Panhuis, Hannah H; van der Eerden, Menno M MM; van der Meer, Renske R; Roukema, Jolt J; Dompeling, Edward E; Weersink, Els J M EJM; Koppelman, Gerard H GH; Vries, Robert R; Zomer-van Ommen, Domenique D DD; Eijkemans, Marinus J C MJC; van der Ent, Cornelis K CK; Beekman, Jeffrey M JM
Publication Date: 2022-08

Variant appearance in text: CFTR: 3080T>C; I1027T
PubMed Link: 35086832
Variant Present in the following documents:
  • ERJ-00508-2021.Supplement.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: rs1800112
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



Theratyping cystic fibrosis in vitro in ALI culture and organoid models generated from patient-derived nasal epithelial conditionally reprogrammed stem cells.

The European Respiratory Journal
Sette, Giovanni G; Lo Cicero, Stefania S; Blaconà, Giovanna G; Pierandrei, Silvia S; Bruno, Sabina Maria SM; Salvati, Valentina V; Castelli, Germana G; Falchi, Mario M; Fabrizzi, Benedetta B; Cimino, Giuseppe G; De Maria, Ruggero R; Biffoni, Mauro M; Eramo, Adriana A; Lucarelli, Marco M
Publication Date: 2021-12

Variant appearance in text: CFTR: Ile1027Thr
PubMed Link: 34413153
Variant Present in the following documents:
  • Main text
  • ERJ-00908-2021.pdf
View BVdb publication page



Theratyping cystic fibrosis in vitro in ALI culture and organoid models generated from patient-derived nasal epithelial conditionally reprogrammed stem cells.

The European Respiratory Journal
Sette, Giovanni G; Lo Cicero, Stefania S; Blaconà, Giovanna G; Pierandrei, Silvia S; Bruno, Sabina Maria SM; Salvati, Valentina V; Castelli, Germana G; Falchi, Mario M; Fabrizzi, Benedetta B; Cimino, Giuseppe G; De Maria, Ruggero R; Biffoni, Mauro M; Eramo, Adriana A; Lucarelli, Marco M
Publication Date: 2021-12

Variant appearance in text: CFTR: Ile1027Thr
PubMed Link: 34413153
Variant Present in the following documents:
  • Main text
  • ERJ-00908-2021.pdf
View BVdb publication page



Quantitative Evaluation of CFTR Pre-mRNA Splicing Dependent on the (TG)mTn Poly-Variant Tract.

Diagnostics (Basel, Switzerland)
Sterrantino, Manuela M; Fuso, Andrea A; Pierandrei, Silvia S; Bruno, Sabina Maria SM; Testino, Giancarlo G; Cimino, Giuseppe G; Angeloni, Antonio A; Lucarelli, Marco M
Publication Date: 2021-01-25

Variant appearance in text: CFTR: 3080T>C; Ile1027Thr
PubMed Link: 33504063
Variant Present in the following documents:
  • Main text
  • diagnostics-11-00168.pdf
View BVdb publication page



Disease-relevant mutations alter amino acid co-evolution networks in the second nucleotide binding domain of CFTR.

Plos One
Ivey, Gabrianne G; Youker, Robert T RT
Publication Date: 2020

Variant appearance in text: CFTR: I1027T
PubMed Link: 31978131
Variant Present in the following documents:
  • Main text
  • pone.0227668.pdf
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: CFTR: 3080T>C; I1027T
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9
View BVdb publication page



Determining the pathogenicity of CFTR missense variants: Multiple comparisons of in silico predictors and variant annotation databases.

Genetics And Molecular Biology
Michels, Marcus M; Matte, Ursula U; Fraga, Lucas Rosa LR; Mancuso, Aline Castello Branco ACB; Ligabue-Braun, Rodrigo R; Berneira, Elias Figueroa Rodrigues EFR; Siebert, Marina M; Sanseverino, Maria Teresa Vieira MTV
Publication Date: 2019

Variant appearance in text: CFTR: 3080T>C
PubMed Link: 31808782
Variant Present in the following documents:
  • Main text
  • 1415-4757-GMB-42-3-2018-0148.pdf
View BVdb publication page



REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Publication Date: 2019-09-04

Variant appearance in text: CFTR: 3080T>C; I1027T
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Pharmacological analysis of CFTR variants of cystic fibrosis using stem cell-derived organoids.

Drug Discovery Today
Chen, Kevin G KG; Zhong, Pingyu P; Zheng, Wei W; Beekman, Jeffrey M JM
Publication Date: 2019-11

Variant appearance in text: CFTR: I1027T
PubMed Link: 31173911
Variant Present in the following documents:
  • Main text
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: I1027T
PubMed Link: 30134826
Variant Present in the following documents:
  • Main text
  • 10020_2018_Article_41.pdf
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: CFTR: 3080T>C; Ile1027Thr
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Deep resequencing of CFTR in 762 F508del homozygotes reveals clusters of non-coding variants associated with cystic fibrosis disease traits.

Human Genome Variation
Vecchio-Pagán, Briana B; Blackman, Scott M SM; Lee, Melissa M; Atalar, Melis M; Pellicore, Matthew J MJ; Pace, Rhonda G RG; Franca, Arianna L AL; Raraigh, Karen S KS; Sharma, Neeraj N; Knowles, Michael R MR; Cutting, Garry R GR
Publication Date: 2016

Variant appearance in text: CFTR: I1027T; rs1800112
PubMed Link: 27917292
Variant Present in the following documents:
  • Main text
  • hgv201638.pdf
View BVdb publication page



Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

The Journal Of Pathology
Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R
Publication Date: 2016-11

Variant appearance in text: CFTR: I1027T; rs1800112
PubMed Link: 27512948
Variant Present in the following documents:
  • PATH-240-315-s015.xlsx, sheet 1
View BVdb publication page



Analysis of the CFTR gene in Venezuelan cystic fibrosis patients, identification of six novel cystic fibrosis-causing genetic variants.

The Application Of Clinical Genetics
Sánchez, Karen K; de Mendonca, Elizabeth E; Matute, Xiorama X; Chaustre, Ismenia I; Villalón, Marlene M; Takiff, Howard H
Publication Date: 2016

Variant appearance in text: CFTR: Ile1027Thr
PubMed Link: 27022295
Variant Present in the following documents:
  • Main text
View BVdb publication page



Next-Generation Molecular Testing of Newborn Dried Blood Spots for Cystic Fibrosis.

The Journal Of Molecular Diagnostics : Jmd
Lefterova, Martina I MI; Shen, Peidong P; Odegaard, Justin I JI; Fung, Eula E; Chiang, Tsoyu T; Peng, Gang G; Davis, Ronald W RW; Wang, Wenyi W; Kharrazi, Martin M; Schrijver, Iris I; Scharfe, Curt C
Publication Date: 2016-03

Variant appearance in text: CFTR: 3080T>C; Ile1027Thr
PubMed Link: 26847993
Variant Present in the following documents:
  • Main text
View BVdb publication page



The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.

European Journal Of Human Genetics : Ejhg
Girardet, Anne A; Viart, Victoria V; Plaza, Stéphanie S; Daina, Gemma G; De Rycke, Martine M; Des Georges, Marie M; Fiorentino, Francesco F; Harton, Gary G; Ishmukhametova, Aliya A; Navarro, Joaquima J; Raynal, Caroline C; Renwick, Pamela P; Saguet, Florielle F; Schwarz, Martin M; SenGupta, Sioban S; Tzetis, Maria M; Roux, Anne-Françoise AF; Claustres, Mireille M
Publication Date: 2016-04

Variant appearance in text: CFTR: 3080T>C; I1027T
PubMed Link: 26014425
Variant Present in the following documents:
  • Main text
  • ejhg201599a.pdf
View BVdb publication page



Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Baker, Mei W MW; Atkins, Anne E AE; Cordovado, Suzanne K SK; Hendrix, Miyono M; Earley, Marie C MC; Farrell, Philip M PM
Publication Date: 2016-03

Variant appearance in text: CFTR: 3080T>C; I1027T
PubMed Link: 25674778
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mechanisms of CFTR functional variants that impair regulated bicarbonate permeation and increase risk for pancreatitis but not for cystic fibrosis.

Plos Genetics
LaRusch, Jessica J; Jung, Jinsei J; General, Ignacio J IJ; Lewis, Michele D MD; Park, Hyun Woo HW; Brand, Randall E RE; Gelrud, Andres A; Anderson, Michelle A MA; Banks, Peter A PA; Conwell, Darwin D; Lawrence, Christopher C; Romagnuolo, Joseph J; Baillie, John J; Alkaade, Samer S; Cote, Gregory G; Gardner, Timothy B TB; Amann, Stephen T ST; Slivka, Adam A; Sandhu, Bimaljit B; Aloe, Amy A; Kienholz, Michelle L ML; Yadav, Dhiraj D; Barmada, M Michael MM; Bahar, Ivet I; Lee, Min Goo MG; Whitcomb, David C DC; ,
Publication Date: 2014-07

Variant appearance in text: CFTR: I1027T
PubMed Link: 25033378
Variant Present in the following documents:
  • Main text
  • pgen.1004376.pdf
View BVdb publication page



In vivo readout of CFTR function: ratiometric measurement of CFTR-dependent secretion by individual, identifiable human sweat glands.

Plos One
Wine, Jeffrey J JJ; Char, Jessica E JE; Chen, Jonathan J; Cho, Hyung-Ju HJ; Dunn, Colleen C; Frisbee, Eric E; Joo, Nam Soo NS; Milla, Carlos C; Modlin, Sara E SE; Park, Il-Ho IH; Thomas, Ewart A C EA; Tran, Kim V KV; Verma, Rohan R; Wolfe, Marlene H MH
Publication Date: 2013

Variant appearance in text: CFTR: I1027T
PubMed Link: 24204751
Variant Present in the following documents:
  • Main text
  • pone.0077114.pdf
View BVdb publication page



Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.

Nature Genetics
Sosnay, Patrick R PR; Siklosi, Karen R KR; Van Goor, Fredrick F; Kaniecki, Kyle K; Yu, Haihui H; Sharma, Neeraj N; Ramalho, Anabela S AS; Amaral, Margarida D MD; Dorfman, Ruslan R; Zielenski, Julian J; Masica, David L DL; Karchin, Rachel R; Millen, Linda L; Thomas, Philip J PJ; Patrinos, George P GP; Corey, Mary M; Lewis, Michelle H MH; Rommens, Johanna M JM; Castellani, Carlo C; Penland, Christopher M CM; Cutting, Garry R GR
Publication Date: 2013-10

Variant appearance in text: CFTR: Ile1027Thr
PubMed Link: 23974870
Variant Present in the following documents:
  • NIHMS512446-supplement-1.pdf
  • NIHMS512446-supplement-12.xlsx, sheet 1
  • nihms-512446.pdf
View BVdb publication page



A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients.

Plos One
Masson, Emmanuelle E; Chen, Jian-Min JM; Audrézet, Marie-Pierre MP; Cooper, David N DN; Férec, Claude C
Publication Date: 2013

Variant appearance in text: CFTR: I1027T
PubMed Link: 23951356
Variant Present in the following documents:
  • pone.0073522.s001.xls, sheet 1
View BVdb publication page



Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California.

The Journal Of Molecular Diagnostics : Jmd
Prach, Lisa L; Koepke, Ruth R; Kharrazi, Martin M; Keiles, Steven S; Salinas, Danieli B DB; Reyes, Maria Carmen MC; Pian, Mark M; Opsimos, Harry H; Otsuka, Kimberly N KN; Hardy, Karen Ann KA; Milla, Carlos E CE; Zirbes, Jacquelyn M JM; Chipps, Bradley B; O'Bra, Susan S; Saeed, Muhammad M MM; Sudhakar, Reddivalam R; Lehto, Susan S; Nielson, Dennis D; Shay, Gregory F GF; Seastrand, Mary M; Jhawar, Sanjay S; Nickerson, Bruce B; Landon, Christopher C; Thompson, Ann A; Nussbaum, Eliezer E; Chin, Terry T; Wojtczak, Henry H; ,
Publication Date: 2013-09

Variant appearance in text: CFTR: I1027T
PubMed Link: 23810505
Variant Present in the following documents:
  • Main text
View BVdb publication page



CFTR mutation analysis and haplotype associations in CF patients.

Molecular Genetics And Metabolism
Cordovado, S K SK; Hendrix, M M; Greene, C N CN; Mochal, S S; Earley, M C MC; Farrell, P M PM; Kharrazi, M M; Hannon, W H WH; Mueller, P W PW
Publication Date: 2012-02

Variant appearance in text: CFTR: I1027T
PubMed Link: 22137130
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical and molecular characterization of S1118F-CFTR.

Pediatric Pulmonology
Penmatsa, Himabindu H; Frederick, Carla A CA; Nekkalapu, Sunitha S; Conoley, Veronica G VG; Zhang, Weiqiang W; Li, Chunying C; Kappes, John J; Stokes, Dennis C DC; Naren, Anjaparavanda P AP
Publication Date: 2009-10

Variant appearance in text: CFTR: I1027T
PubMed Link: 19774621
Variant Present in the following documents:
  • Main text
View BVdb publication page



A novel computational and structural analysis of nsSNPs in CFTR gene.

Genomic Medicine
George Priya Doss, C C; Rajasekaran, R R; Sudandiradoss, C C; Ramanathan, K K; Purohit, R R; Sethumadhavan, R R
Publication Date: 2008-01

Variant appearance in text: CFTR: I1027T; rs1800112
PubMed Link: 18716917
Variant Present in the following documents:
  • Main text
View BVdb publication page



Validation of high-resolution DNA melting analysis for mutation scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

The Journal Of Molecular Diagnostics : Jmd
Audrezet, Marie-Pierre MP; Dabricot, Aurélia A; Le Marechal, Cédric C; Ferec, Claude C
Publication Date: 2008-09

Variant appearance in text: CFTR: I1027T
PubMed Link: 18687795
Variant Present in the following documents:
  • Main text
View BVdb publication page



Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum.

The Journal Of Molecular Diagnostics : Jmd
Schrijver, Iris I; Ramalingam, Sudha S; Sankaran, Ramalingam R; Swanson, Steve S; Dunlop, Charles L M CL; Keiles, Steven S; Moss, Richard B RB; Oehlert, John J; Gardner, Phyllis P; Wassman, E Robert ER; Kammesheidt, Anja A
Publication Date: 2005-05

Variant appearance in text: CFTR: I1027T
PubMed Link: 15858154
Variant Present in the following documents:
  • Main text
View BVdb publication page