CFTR c.3947G>A ;(p.W1316*)

Variant ID: 7-117292969-G-A

NM_000492.3(CFTR):c.3947G>A;(p.W1316*)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Beyond Mendelian Inheritance: Genetic Buffering and Phenotype Variability.

Phenomics (Cham, Switzerland)
Rossi, Andrea A; Kontarakis, Zacharias Z
Publication Date: 2022-04

Variant appearance in text: CFTR: W1316X
PubMed Link: 36939776
Variant Present in the following documents:
  • Main text
  • 43657_2021_Article_30.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: 3947G>A; Trp1316Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Transcriptomic and Proteostasis Networks of CFTR and the Development of Small Molecule Modulators for the Treatment of Cystic Fibrosis Lung Disease.

Genes
Strub, Matthew D MD; McCray, Paul B PB
Publication Date: 2020-05-13

Variant appearance in text: CFTR: W1316X
PubMed Link: 32414011
Variant Present in the following documents:
  • genes-11-00546.pdf
View BVdb publication page



Mutation spectrum of Egyptian children with cystic fibrosis.

Springerplus
Shahin, Walaa Aboulkasem WA; Mehaney, Dina Ahmed DA; El-Falaki, Mona Mostafa MM
Publication Date: 2016

Variant appearance in text: CFTR: W1316X
PubMed Link: 27347467
Variant Present in the following documents:
  • Main text
  • 40064_2016_Article_2338.pdf
View BVdb publication page



A systematic approach to the reporting of medically relevant findings from whole genome sequencing.

Bmc Medical Genetics
McLaughlin, Heather M HM; Ceyhan-Birsoy, Ozge O; Christensen, Kurt D KD; Kohane, Isaac S IS; Krier, Joel J; Lane, William J WJ; Lautenbach, Denise D; Lebo, Matthew S MS; Machini, Kalotina K; MacRae, Calum A CA; Azzariti, Danielle R DR; Murray, Michael F MF; Seidman, Christine E CE; Vassy, Jason L JL; Green, Robert C RC; Rehm, Heidi L HL; ,
Publication Date: 2014-12-14

Variant appearance in text: CFTR: W1316X
PubMed Link: 25714468
Variant Present in the following documents:
  • 12881_2014_134_MOESM2_ESM.pdf
View BVdb publication page



The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine.

Trials
Vassy, Jason L JL; Lautenbach, Denise M DM; McLaughlin, Heather M HM; Kong, Sek Won SW; Christensen, Kurt D KD; Krier, Joel J; Kohane, Isaac S IS; Feuerman, Lindsay Z LZ; Blumenthal-Barby, Jennifer J; Roberts, J Scott JS; Lehmann, Lisa Soleymani LS; Ho, Carolyn Y CY; Ubel, Peter A PA; MacRae, Calum A CA; Seidman, Christine E CE; Murray, Michael F MF; McGuire, Amy L AL; Rehm, Heidi L HL; Green, Robert C RC; ,
Publication Date: 2014-03-20

Variant appearance in text: CFTR: W1316X
PubMed Link: 24645908
Variant Present in the following documents:
  • 1745-6215-15-85-S1.pdf
View BVdb publication page



The K+ channel opener 1-EBIO potentiates residual function of mutant CFTR in rectal biopsies from cystic fibrosis patients.

Plos One
Roth, Eva K EK; Hirtz, Stephanie S; Duerr, Julia J; Wenning, Daniel D; Eichler, Irmgard I; Seydewitz, Hans H HH; Amaral, Margarida D MD; Mall, Marcus A MA
Publication Date: 2011

Variant appearance in text: CFTR: W1316X
PubMed Link: 21909392
Variant Present in the following documents:
  • pone.0024445.pdf
View BVdb publication page



Targets for cystic fibrosis therapy: proteomic analysis and correction of mutant cystic fibrosis transmembrane conductance regulator.

Expert Review Of Proteomics
Collawn, James F JF; Fu, Lianwu L; Bebok, Zsuzsa Z
Publication Date: 2010-08

Variant appearance in text: CFTR: W1316X
PubMed Link: 20653506
Variant Present in the following documents:
  • Main text
View BVdb publication page



The impact of cellular networks on disease comorbidity.

Molecular Systems Biology
Park, Juyong J; Lee, Deok-Sun DS; Christakis, Nicholas A NA; Barabási, Albert-László AL
Publication Date: 2009

Variant appearance in text: CFTR: TRP1316TER
PubMed Link: 19357641
Variant Present in the following documents:
  • msb200916-s1.pdf
View BVdb publication page



Multiplex ligation-dependent probe amplification identification of whole exon and single nucleotide deletions in the CFTR gene of Hispanic individuals with cystic fibrosis.

The Journal Of Molecular Diagnostics : Jmd
Schrijver, Iris I; Rappahahn, Krista K; Pique, Lynn L; Kharrazi, Martin M; Wong, Lee-Jun LJ
Publication Date: 2008-07

Variant appearance in text: CFTR: W1316X
PubMed Link: 18556774
Variant Present in the following documents:
  • Main text
View BVdb publication page



Abnormal localization of cystic fibrosis transmembrane conductance regulator in primary cultures of cystic fibrosis airway epithelia.

The Journal Of Cell Biology
Denning, G M GM; Ostedgaard, L S LS; Welsh, M J MJ
Publication Date: 1992-08

Variant appearance in text: CFTR: W1316X
PubMed Link: 1379244
Variant Present in the following documents:
  • jc1183551.pdf
View BVdb publication page