CFTR c.274G>A ;(p.E92K)

Variant ID: 7-117170953-G-A

NM_000492.3(CFTR):c.274G>A;(p.E92K)

This variant was identified in 79 publications

View GRCh38 version.




Publications:


The CFTR Gene Germline Heterozygous Pathogenic Variants in Russian Patients with Malignant Neoplasms and Healthy Carriers: 11,800 WGS Results.

International Journal Of Molecular Sciences
Makarova, Maria M; Nemtsova, Marina M; Danishevich, Anastasiia A; Chernevskiy, Denis D; Belenikin, Maxim M; Krinitsina, Anastasiia A; Baranova, Elena E; Sagaydak, Olesya O; Vorontsova, Maria M; Khatkov, Igor I; Zhukova, Lyudmila L; Bodunova, Natalia N; Nikolaev, Sergey S; Byakhova, Mariya M; Semenova, Anna A; Galkin, Vsevolod V; Gadzhieva, Saida S
Publication Date: 2023-04-27

Variant appearance in text: CFTR: 274G>A; E92K; rs121908751
PubMed Link: 37175647
Variant Present in the following documents:
  • ijms-24-07940.pdf
View BVdb publication page



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: 274G>A; Glu92Lys
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: E92K
PubMed Link: 36670555
Variant Present in the following documents:
  • children-10-00004.pdf
View BVdb publication page



Acting on the CFTR Membrane-Spanning Domains Interface Rescues Some Misfolded Mutants.

International Journal Of Molecular Sciences
Baatallah, Nesrine N; Elbahnsi, Ahmad A; Chevalier, Benoit B; Castanier, Solène S; Mornon, Jean-Paul JP; Pranke, Iwona I; Edelman, Aleksander A; Sermet-Gaudelus, Isabelle I; Callebaut, Isabelle I; Hinzpeter, Alexandre A
Publication Date: 2022-12-19

Variant appearance in text: CFTR: E92K
PubMed Link: 36555865
Variant Present in the following documents:
  • Main text
  • ijms-23-16225.pdf
View BVdb publication page



Personalized Selection of a CFTR Modulator for a Patient with a Complex Allele [L467F;F508del].

Current Issues In Molecular Biology
Kondratyeva, Elena E; Bulatenko, Nataliya N; Melyanovskaya, Yuliya Y; Efremova, Anna A; Zhekaite, Elena E; Sherman, Viktoriya V; Voronkova, Anna A; Asherova, Irina I; Polyakov, Alexander A; Adyan, Tagui T; Kovalskaia, Valeriia V; Bukharova, Tatiana T; Goldshtein, Dmitry D; Kutsev, Sergey S
Publication Date: 2022-10-21

Variant appearance in text: CFTR: 274G>A; E92K
PubMed Link: 36286063
Variant Present in the following documents:
  • Main text
  • cimb-44-00349.pdf
View BVdb publication page



Genotype-phenotype correlations of cystic fibrosis in siblings compound heterozygotes for rare variant combinations: Review of literature and case report.

Respiratory Medicine Case Reports
Tkemaladze, Tinatin T; Kvaratskhelia, Eka E; Ghughunishvili, Mariam M; Lentze, Michael J MJ; Abzianidze, Elene E; Skrahina, Volha V; Rolfs, Arndt A
Publication Date: 2022

Variant appearance in text: CFTR: 274G>A; Glu92Lys
PubMed Link: 36238659
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases.

Journal Of Personalized Medicine
Sotnikova, Evgeniia A EA; Kiseleva, Anna V AV; Kutsenko, Vladimir A VA; Zharikova, Anastasia A AA; Ramensky, Vasily E VE; Divashuk, Mikhail G MG; Vyatkin, Yuri V YV; Klimushina, Marina V MV; Ershova, Alexandra I AI; Revazyan, Karina Z KZ; Skirko, Olga P OP; Zaicenoka, Marija M; Efimova, Irina A IA; Pokrovskaya, Maria S MS; Kopylova, Oksana V OV; Glechan, Anush M AM; Shalnova, Svetlana A SA; Meshkov, Alexey N AN; Drapkina, Oxana M OM
Publication Date: 2022-07-12

Variant appearance in text: CFTR: E92K; rs121908751
PubMed Link: 35887629
Variant Present in the following documents:
  • Main text
  • jpm-12-01132.pdf
View BVdb publication page



One Size Does Not Fit All: The Past, Present and Future of Cystic Fibrosis Causal Therapies.

Cells
Ensinck, Marjolein M MM; Carlon, Marianne S MS
Publication Date: 2022-06-08

Variant appearance in text: CFTR: 274G>A; E92K
PubMed Link: 35740997
Variant Present in the following documents:
  • Main text
  • cells-11-01868.pdf
View BVdb publication page



Author Correction: Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications
Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R
Publication Date: 2022-05-10

Variant appearance in text: CFTR: E92K
PubMed Link: 35538087
Variant Present in the following documents:
  • 41467_2022_30446_MOESM1_ESM.xlsx, sheet 3
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: E92K
PubMed Link: 35418593
Variant Present in the following documents:
  • Main text
  • 42003_2022_Article_3302.pdf
View BVdb publication page



Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications
Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R
Publication Date: 2022-02-23

Variant appearance in text: CFTR: E92K
PubMed Link: 35197475
Variant Present in the following documents:
  • 41467_2022_28566_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Functionally additive fixed positive and negative charges in the CFTR channel pore control anion binding and conductance.

The Journal Of Biological Chemistry
Linsdell, Paul P; Irving, Christina L CL; Cowley, Elizabeth A EA
Publication Date: 2022-03

Variant appearance in text: CFTR: E92K
PubMed Link: 35101441
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



The Genetic Analysis of Cystic Fibrosis Patients With Seven Novel Mutations in the CFTR Gene in the Central Anatolian Region of Turkey.

Balkan Medical Journal
Erdoğan, Murat M; Köse, Mehmet M; Pekcan, Sevgi S; Hangül, Melih M; Balta, Burhan B; Kiraz, Aslıhan A; Akıncı Gönen, Gizem G; Zamani, Ayşe Gül AG; Yıldırım, Mahmut Selam MS; Ramaslı Gürsoy, Tuğba T; Ezgu, Fatih F; Şişmanlar Eyüpoğlu, Tuğba T; Tana Aslan, Ayse A
Publication Date: 2021-11

Variant appearance in text: CFTR: 274G>A; E92K; rs121908751
PubMed Link: 34860163
Variant Present in the following documents:
  • bmj-38-6-357.pdf
View BVdb publication page



Cystic Fibrosis Transmembrane Conductance Regulator Folding Mutations Reveal Differences in Corrector Efficacy Linked to Increases in Immature Cystic Fibrosis Transmembrane Conductance Regulator Expression.

Frontiers In Physiology
Peters, Kathryn W KW; Gong, Xiaoyan X; Frizzell, Raymond A RA
Publication Date: 2021

Variant appearance in text: CFTR: E92K
PubMed Link: 34764878
Variant Present in the following documents:
  • Main text
  • fphys-12-695767.pdf
  • Table_1.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: rs121908751
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: rs121908751
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



Epidemiology of Rare Hereditary Diseases in the European Part of Russia: Point and Cumulative Prevalence.

Frontiers In Genetics
Zinchenko, Rena A RA; Ginter, Eugeny K EK; Marakhonov, Andrey V AV; Petrova, Nika V NV; Kadyshev, Vitaly V VV; Vasilyeva, Tatyana P TP; Alexandrova, Oksana U OU; Polyakov, Alexander V AV; Kutsev, Sergey I SI
Publication Date: 2021

Variant appearance in text: CFTR: 274G>A; E92K
PubMed Link: 34527017
Variant Present in the following documents:
  • fgene-12-678957.pdf
View BVdb publication page



A Precision Medicine Approach to Optimize Modulator Therapy for Rare CFTR Folding Mutants.

Journal Of Personalized Medicine
Veit, Guido G; Velkov, Tony T; Xu, Haijin H; Vadeboncoeur, Nathalie N; Bilodeau, Lara L; Matouk, Elias E; Lukacs, Gergely L GL
Publication Date: 2021-07-07

Variant appearance in text: CFTR: E92K
PubMed Link: 34357110
Variant Present in the following documents:
  • Main text
  • jpm-11-00643.pdf
View BVdb publication page



Ethnic Differences in the Frequency of CFTR Gene Mutations in Populations of the European and North Caucasian Part of the Russian Federation.

Frontiers In Genetics
Petrova, Nika N; Balinova, Natalia N; Marakhonov, Andrey A; Vasilyeva, Tatyana T; Kashirskaya, Nataliya N; Galkina, Varvara V; Ginter, Evgeniy E; Kutsev, Sergey S; Zinchenko, Rena R
Publication Date: 2021

Variant appearance in text: CFTR: E92K
PubMed Link: 34220950
Variant Present in the following documents:
  • Main text
  • Table_2.xlsx, sheet 1
  • fgene-12-678374.pdf
  • Table_1.xlsx, sheet 1
View BVdb publication page



Genetic Variant c.245A>G (p.Asn82Ser) in GIPC3 Gene Is a Frequent Cause of Hereditary Nonsyndromic Sensorineural Hearing Loss in Chuvash Population.

Genes
Petrova, Nika V NV; Marakhonov, Andrey V AV; Balinova, Natalia V NV; Abrukova, Anna V AV; Konovalov, Fedor A FA; Kutsev, Sergey I SI; Zinchenko, Rena A RA
Publication Date: 2021-05-27

Variant appearance in text: CFTR: 274G>A; Glu92Lys
PubMed Link: 34071867
Variant Present in the following documents:
  • Main text
View BVdb publication page



[Cystic fibrosis being a polyendocrine disease (Review)].

Problemy Endokrinologii
Chagay, N B NB; Khayt, G Ya GY; Vdovina, T M TM; Shaforost, A A AA
Publication Date: 2021-03-30

Variant appearance in text: CFTR: E92K
PubMed Link: 34004101
Variant Present in the following documents:
  • problendo-67-12694.pdf
View BVdb publication page



DeltaF508 CFTR Hetero- and Homozygous Paediatric Patients with Cystic Fibrosis Do Not Differ with Regard to Nutritional Status.

Nutrients
Mędza, Aleksandra A; Kaźmierska, Katarzyna K; Wielgomas, Bartosz B; Konieczna, Lucyna L; Olędzka, Ilona I; Szlagatys-Sidorkiewicz, Agnieszka A; Sznurkowska, Katarzyna K
Publication Date: 2021-04-21

Variant appearance in text: CFTR: E92K
PubMed Link: 33919435
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cystic Fibrosis Polymorphic Variants in a Russian Population.

Pharmacogenomics And Personalized Medicine
Kiseleva, Anna A; Klimushina, Marina M; Sotnikova, Evgeniia E; Skirko, Olga O; Divashuk, Mikhail M; Kurilova, Olga O; Ershova, Alexandra A; Khlebus, Eleonora E; Zharikova, Anastasia A; Efimova, Irina I; Pokrovskaya, Maria M; Slominsky, Petr A PA; Shalnova, Svetlana S; Meshkov, Alexey A; Drapkina, Oxana O
Publication Date: 2020

Variant appearance in text: CFTR: E92K; rs121908751
PubMed Link: 33623413
Variant Present in the following documents:
  • Main text
View BVdb publication page



Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey.

Genes
Bozdogan, Sevcan Tug ST; Mujde, Cem C; Boga, Ibrahim I; Sonmezler, Ozge O; Hanta, Abdullah A; Rencuzogullari, Cagla C; Ozcan, Dilek D; Altintas, Derya Ufuk DU; Bisgin, Atil A
Publication Date: 2021-01-31

Variant appearance in text: CFTR: E92K
PubMed Link: 33572515
Variant Present in the following documents:
  • Main text
  • genes-12-00206.pdf
View BVdb publication page



Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters.

European Journal Of Human Genetics : Ejhg
Publication Date: 2020-12

Variant appearance in text: CFTR: 274G>A; Glu92Lys
PubMed Link: 33262486
Variant Present in the following documents:
  • Main text
  • 41431_2020_Article_741.pdf
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: CFTR: 274G>A; E92K
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Crystal Structure of Isoform CBd of the Basic Phospholipase A2 Subunit of Crotoxin: Description of the Structural Framework of CB for Interaction with Protein Targets.

Molecules (Basel, Switzerland)
Nemecz, Dorota D; Ostrowski, Maciej M; Ravatin, Marc M; Saul, Frederick F; Faure, Grazyna G
Publication Date: 2020-11-13

Variant appearance in text: CFTR: Glu92Lys
PubMed Link: 33202772
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies.

Plos Genetics
Joynt, Anya T AT; Evans, Taylor A TA; Pellicore, Matthew J MJ; Davis-Marcisak, Emily F EF; Aksit, Melis A MA; Eastman, Alice C AC; Patel, Shivani U SU; Paul, Kathleen C KC; Osorio, Derek L DL; Bowling, Alyssa D AD; Cotton, Calvin U CU; Raraigh, Karen S KS; West, Natalie E NE; Merlo, Christian A CA; Cutting, Garry R GR; Sharma, Neeraj N
Publication Date: 2020-10

Variant appearance in text: CFTR: 274G>A; Glu92Lys
PubMed Link: 33085659
Variant Present in the following documents:
  • Main text
  • pgen.1009100.pdf
View BVdb publication page



Performance of a Three-Tier (IRT-DNA-IRT) Cystic Fibrosis Screening Algorithm in British Columbia.

International Journal Of Neonatal Screening
Sinclair, Graham G; McMahon, Vanessa V; Schellenberg, Amy A; Nelson, Tanya N TN; Chilvers, Mark M; Vallance, Hilary H
Publication Date: 2020-06

Variant appearance in text: CFTR: E92K
PubMed Link: 33073036
Variant Present in the following documents:
  • IJNS-06-00046-s001.xlsx, sheet 1
View BVdb publication page



Clinical Presentation of the c.3844T>C (p.Trp1282Arg, W1282R) Variant in Russian Cystic Fibrosis Patients.

Genes
Petrova, Nika V NV; Kashirskaya, Nataliya Y NY; Krasovskiy, Stanislav A SA; Amelina, Elena L EL; Kondratyeva, Elena I EI; Marakhonov, Andrey V AV; Vasilyeva, Tatyana A TA; Voronkova, Anna Y AY; Sherman, Victoria D VD; Ginter, Evgeny K EK; Kutsev, Sergey I SI; Zinchenko, Rena A RA
Publication Date: 2020-09-27

Variant appearance in text: CFTR: 274G>A; E92K
PubMed Link: 32992607
Variant Present in the following documents:
  • Main text
View BVdb publication page



Fluorescence assay for simultaneous quantification of CFTR ion-channel function and plasma membrane proximity.

The Journal Of Biological Chemistry
Prins, Stella S; Langron, Emily E; Hastings, Cato C; Hill, Emily J EJ; Stefan, Andra C AC; Griffin, Lewis D LD; Vergani, Paola P
Publication Date: 2020-12-04

Variant appearance in text: CFTR: E92K
PubMed Link: 32934006
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Allosteric folding correction of F508del and rare CFTR mutants by elexacaftor-tezacaftor-ivacaftor (Trikafta) combination.

Jci Insight
Veit, Guido G; Roldan, Ariel A; Hancock, Mark A MA; Da Fonte, Dillon F DF; Xu, Haijin H; Hussein, Maytham M; Frenkiel, Saul S; Matouk, Elias E; Velkov, Tony T; Lukacs, Gergely L GL
Publication Date: 2020-09-17

Variant appearance in text: CFTR: E92K
PubMed Link: 32853178
Variant Present in the following documents:
  • Main text
  • jciinsight-5-139983.pdf
  • jciinsight-5-139983-s205.pdf
View BVdb publication page



Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Bmc Medical Genetics
Zhou, Yingjie Y; Tariq, Muhammad M; He, Sijie S; Abdullah, Uzma U; Zhang, Jianguo J; Baig, Shahid Mahmood SM
Publication Date: 2020-07-18

Variant appearance in text: CFTR: 274G>A; Glu92Lys
PubMed Link: 32682410
Variant Present in the following documents:
  • 12881_2020_1087_MOESM1_ESM.xlsx, sheet 5
  • 12881_2020_1087_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Ubiquitination of disease-causing CFTR variants in a microsome-based assay.

Analytical Biochemistry
Estabrooks, Samuel K SK; Brodsky, Jeffrey L JL
Publication Date: 2020-09-01

Variant appearance in text: CFTR: E92K
PubMed Link: 32621804
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients.

Genes
Petrova, Nika V NV; Kashirskaya, Nataliya Y NY; Vasilyeva, Tatyana A TA; Kondratyeva, Elena I EI; Zhekaite, Elena K EK; Voronkova, Anna Y AY; Sherman, Victoria D VD; Galkina, Varvara A VA; Ginter, Eugeny K EK; Kutsev, Sergey I SI; Marakhonov, Andrey V AV; Zinchenko, Rena A RA
Publication Date: 2020-05-15

Variant appearance in text: CFTR: 274G>A
PubMed Link: 32429104
Variant Present in the following documents:
  • Main text
View BVdb publication page



Phenotyping of Rare CFTR Mutations Reveals Distinct Trafficking and Functional Defects.

Cells
Ensinck, Marjolein M; De Keersmaecker, Liesbeth L; Heylen, Lise L; Ramalho, Anabela S AS; Gijsbers, Rik R; Farré, Ricard R; De Boeck, Kris K; Christ, Frauke F; Debyser, Zeger Z; Carlon, Marianne S MS
Publication Date: 2020-03-19

Variant appearance in text: CFTR: Glu92Lys
PubMed Link: 32204475
Variant Present in the following documents:
  • Main text
  • cells-09-00754.pdf
View BVdb publication page



CFTR Modulators: The Changing Face of Cystic Fibrosis in the Era of Precision Medicine.

Frontiers In Pharmacology
Lopes-Pacheco, Miquéias M
Publication Date: 2019

Variant appearance in text: CFTR: E92K
PubMed Link: 32153386
Variant Present in the following documents:
  • Main text
View BVdb publication page



Regulation of CFTR Biogenesis by the Proteostatic Network and Pharmacological Modulators.

International Journal Of Molecular Sciences
Estabrooks, Samuel S; Brodsky, Jeffrey L JL
Publication Date: 2020-01-10

Variant appearance in text: CFTR: E92K
PubMed Link: 31936842
Variant Present in the following documents:
  • Main text
  • ijms-21-00452.pdf
View BVdb publication page



Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.

Molecular Cytogenetics
Koumbaris, George G; Achilleos, Achilleas A; Nicolaou, Michalis M; Loizides, Charalambos C; Tsangaras, Kyriakos K; Kypri, Elena E; Mina, Petros P; Sismani, Carolina C; Velissariou, Voula V; Christopoulou, Georgia G; Constantoulakis, Pantelis P; Manolakos, Emmanouil E; Papoulidis, Ioannis I; Stambouli, Danai D; Ioannides, Marios M; Patsalis, Philippos P
Publication Date: 2019

Variant appearance in text: CFTR: 274G>A; Glu92Lys
PubMed Link: 31832098
Variant Present in the following documents:
  • 13039_2019_459_MOESM4_ESM.xlsx, sheet 1
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: 274G>A; E92K
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9
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: 274G>A; E92K
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics
Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F
Publication Date: 2019-07-25

Variant appearance in text: CFTR: E92K
PubMed Link: 31345222
Variant Present in the following documents:
  • 12920_2019_543_MOESM8_ESM.xlsx, sheet 2
View BVdb publication page



Identification of 99% of CFTR gene mutations in Bulgarian-, Bulgarian Turk-, and Roma cystic fibrosis patients.

Molecular Genetics & Genomic Medicine
Petrova, Guergana G; Yaneva, Nadezhda N; Hrbková, Jana J; Libik, Malgorzata M; Savov, Alexey A; Macek, Milan M
Publication Date: 2019-08

Variant appearance in text: CFTR: 274G>A; Glu92Lys
PubMed Link: 31245908
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of GLPG/ABBV-2737, a Novel Class of Corrector, Which Exerts Functional Synergy With Other CFTR Modulators.

Frontiers In Pharmacology
de Wilde, Gert G; Gees, Maarten M; Musch, Sara S; Verdonck, Katleen K; Jans, Mia M; Wesse, Anne-Sophie AS; Singh, Ashvani K AK; Hwang, Tzyh-Chang TC; Christophe, Thierry T; Pizzonero, Mathieu M; Van der Plas, Steven S; Desroy, Nicolas N; Cowart, Marlon M; Stouten, Pieter P; Nelles, Luc L; Conrath, Katja K
Publication Date: 2019

Variant appearance in text: CFTR: E92K
PubMed Link: 31143125
Variant Present in the following documents:
  • Main text
  • fphar-10-00514.pdf
  • Data_Sheet_1.pdf
View BVdb publication page