CFTR c.57G>A ;(p.W19*)

Variant ID: 7-117144310-G-A

NM_000492.3(CFTR):c.57G>A;(p.W19*)

This variant was identified in 7 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: 57G>A; Trp19Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Molecular dynamics and functional characterization of I37R-CFTR lasso mutation provide insights into channel gating activity.

Iscience
Wong, Sharon L SL; Awatade, Nikhil T NT; Astore, Miro A MA; Allan, Katelin M KM; Carnell, Michael J MJ; Slapetova, Iveta I; Chen, Po-Chia PC; Capraro, Alexander A; Fawcett, Laura K LK; Whan, Renee M RM; Griffith, Renate R; Ooi, Chee Y CY; Kuyucak, Serdar S; Jaffe, Adam A; Waters, Shafagh A SA
Publication Date: 2022-01-21

Variant appearance in text: CFTR: 57G>A; Trp19X
PubMed Link: 35072004
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Burden of cystic fibrosis in children <12 years of age prior to the introduction of CFTR modulator therapies.

Bmj Open Respiratory Research
Bresnick, Kathryn K; Arteaga-Solis, Emilio E; Millar, Stefanie J SJ; Laird, Glen G; LeCamus, Cecile C
Publication Date: 2021-12

Variant appearance in text: CFTR: W19X
PubMed Link: 34857524
Variant Present in the following documents:
  • bmjresp-2021-000998supp001.pdf
View BVdb publication page



Burden of cystic fibrosis in children <12 years of age prior to the introduction of CFTR modulator therapies.

Bmj Open Respiratory Research
Bresnick, Kathryn K; Arteaga-Solis, Emilio E; Millar, Stefanie J SJ; Laird, Glen G; LeCamus, Cecile C
Publication Date: 2021-12

Variant appearance in text: CFTR: W19X
PubMed Link: 34857524
Variant Present in the following documents:
  • bmjresp-2021-000998supp001.pdf
View BVdb publication page



On how to generalize species-specific conceptual schemes to generate a species-independent Conceptual Schema of the Genome.

Bmc Bioinformatics
GarcĂ­a S, Alberto A; Casamayor, Juan Carlos JC
Publication Date: 2021-09-30

Variant appearance in text: CFTR: 57G>A; Trp19Ter
PubMed Link: 34592923
Variant Present in the following documents:
  • Main text
  • 12859_2021_Article_4237.pdf
View BVdb publication page



Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports
Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z
Publication Date: 2018-10-30

Variant appearance in text: CFTR: W19X
PubMed Link: 30380422
Variant Present in the following documents:
  • NIHMS1511993-supplement-6.xlsx, sheet 1
View BVdb publication page



Genetics and genomic medicine in Tunisia.

Molecular Genetics & Genomic Medicine
Elloumi-Zghal, Houda H; Chaabouni Bouhamed, Habiba H
Publication Date: 2018-03

Variant appearance in text: CFTR: Trp19Ter
PubMed Link: 29663716
Variant Present in the following documents:
  • Main text
  • MGG3-6-134.pdf
View BVdb publication page