CFTR c.2506G>T ;(p.D836Y)

Variant ID: 7-117234999-G-T

NM_000492.3(CFTR):c.2506G>T;(p.D836Y)

This variant was identified in 20 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: D836Y
PubMed Link: 36670555
Variant Present in the following documents:
  • children-10-00004.pdf
View BVdb publication page



Common and rare variants in patients with early onset drusen maculopathy.

Clinical Genetics
de Breuk, Anita A; Lechanteur, Yara T E YTE; Astuti, Galuh G; Galbany, Jordi Corominas JC; Klaver, Caroline C W CCW; Hoyng, Carel B CB; den Hollander, Anneke I AI
Publication Date: 2022-11

Variant appearance in text: CFTR: 2506G>T; Asp836Tyr
PubMed Link: 36053979
Variant Present in the following documents:
  • CGE-102-414-s009.xlsx, sheet 1
View BVdb publication page



Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Ebiomedicine
Wang, Tao T; Zhao, Tingting T; Liu, Liqiu L; Teng, Huajing H; Fan, Tianda T; Li, Yi Y; Wang, Yan Y; Li, Jinchen J; Xia, Kun K; Sun, Zhongsheng Z
Publication Date: 2022-07

Variant appearance in text: CFTR: 2506G>T; D836Y; rs201386642
PubMed Link: 35665681
Variant Present in the following documents:
  • mmc26.xlsx, sheet 1
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: D836Y
PubMed Link: 35652053
Variant Present in the following documents:
  • Main text
  • fped-10-881470.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: 2506G>T; rs201386642
PubMed Link: 34860163
Variant Present in the following documents:
  • bmj-38-6-357.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: rs201386642
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: rs201386642
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



Association of the CFTR gene with asthma and airway mucus hypersecretion.

Plos One
Crespo-Lessmann, Astrid A; Bernal, Sara S; Del Río, Elisabeth E; Rojas, Ester E; Martínez-Rivera, Carlos C; Marina, Nuria N; Pallarés-Sanmartín, Abel A; Pascual, Silvia S; García-Rivero, Juan Luis JL; Padilla-Galo, Alicia A; Curto, Elena E; Cisneros, Carolina C; Serrano, José J; Baiget, Montserrat M; Plaza, Vicente V; ,
Publication Date: 2021

Variant appearance in text: CFTR: 2506G>T; Asp836Tyr
PubMed Link: 34086689
Variant Present in the following documents:
  • Main text
  • pone.0251881.pdf
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: D836Y
PubMed Link: 33572515
Variant Present in the following documents:
  • Main text
  • genes-12-00206.pdf
View BVdb publication page



Linker Domains: Why ABC Transporters 'Live in Fragments no Longer'.

Trends In Biochemical Sciences
Ford, Robert C RC; Marshall-Sabey, Dominic D; Schuetz, John J
Publication Date: 2020-02

Variant appearance in text: ABCC7: D836Y
PubMed Link: 31839525
Variant Present in the following documents:
  • Main text
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: Asp836Tyr
PubMed Link: 31808782
Variant Present in the following documents:
  • Main text
  • 1415-4757-GMB-42-3-2018-0148.pdf
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: 2506G>T; Asp836Tyr
PubMed Link: 31165590
Variant Present in the following documents:
  • MGG3-7-e00748-s004.xlsx, sheet 1
View BVdb publication page



The road for survival improvement of cystic fibrosis patients in Arab countries.

International Journal Of Pediatrics & Adolescent Medicine
Banjar, Hanaa H; Angyalosi, Gerhild G
Publication Date: 2015-06

Variant appearance in text: CFTR: D836Y
PubMed Link: 30805437
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07

Variant appearance in text: CFTR: D836Y; rs201386642
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
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: 2506G>T; Asp836Tyr
PubMed Link: 29805046
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structural mechanisms of CFTR function and dysfunction.

The Journal Of General Physiology
Hwang, Tzyh-Chang TC; Yeh, Jiunn-Tyng JT; Zhang, Jingyao J; Yu, Ying-Chun YC; Yeh, Han-I HI; Destefano, Samantha S
Publication Date: 2018-04-02

Variant appearance in text: CFTR: D836Y
PubMed Link: 29581173
Variant Present in the following documents:
  • Main text
  • JGP_201711946.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: rs201386642
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
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: D836Y
PubMed Link: 27214204
Variant Present in the following documents:
  • Main text
View BVdb publication page



State-dependent regulation of cystic fibrosis transmembrane conductance regulator (CFTR) gating by a high affinity Fe3+ bridge between the regulatory domain and cytoplasmic loop 3.

The Journal Of Biological Chemistry
Wang, Guangyu G
Publication Date: 2010-12-24

Variant appearance in text: CFTR: D836Y
PubMed Link: 20952391
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: D836Y
PubMed Link: 15858154
Variant Present in the following documents:
  • Main text
View BVdb publication page