CFTR c.57G>T ;(p.W19C)

Variant ID: 7-117144310-G-T

NM_000492.3(CFTR):c.57G>T;(p.W19C)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


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>T; Trp19Cys
PubMed Link: 35072004
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Low neoantigen expression and poor T-cell priming underlie early immune escape in colorectal cancer.

Nature Cancer
Westcott, Peter M K PMK; Sacks, Nathan J NJ; Schenkel, Jason M JM; Ely, Zackery A ZA; Smith, Olivia O; Hauck, Haley H; Jaeger, Alex M AM; Zhang, Daniel D; Backlund, Coralie M CM; Beytagh, Mary C MC; Patten, J J JJ; Elbashir, Ryan R; Eng, George G; Irvine, Darrell J DJ; Yilmaz, Omer H OH; Jacks, Tyler T
Publication Date: 2021-10

Variant appearance in text: CFTR: 57G>T; Trp19Cys
PubMed Link: 34738089
Variant Present in the following documents:
  • NIHMS1725490-supplement-Source_Data_Figure_1.xlsx, sheet 1
View BVdb publication page



Biochemical basis of the interaction between cystic fibrosis transmembrane conductance regulator and immunoglobulin-like repeats of filamin.

The Journal Of Biological Chemistry
Smith, Laura L; Page, Richard C RC; Xu, Zhen Z; Kohli, Ekta E; Litman, Paul P; Nix, Jay C JC; Ithychanda, Sujay S SS; Liu, Jianmin J; Qin, Jun J; Misra, Saurav S; Liedtke, Carole M CM
Publication Date: 2010-05-28

Variant appearance in text: CFTR: W19C
PubMed Link: 20351101
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cystic fibrosis transmembrane conductance regulator interacts with multiple immunoglobulin domains of filamin A.

The Journal Of Biological Chemistry
Playford, Martin P MP; Nurminen, Elisa E; Pentikäinen, Olli T OT; Milgram, Sharon L SL; Hartwig, John H JH; Stossel, Thomas P TP; Nakamura, Fumihiko F
Publication Date: 2010-05-28

Variant appearance in text: CFTR: W19C
PubMed Link: 20351098
Variant Present in the following documents:
  • Main text
View BVdb publication page



Direct interaction with filamins modulates the stability and plasma membrane expression of CFTR.

The Journal Of Clinical Investigation
Thelin, William R WR; Chen, Yun Y; Gentzsch, Martina M; Kreda, Silvia M SM; Sallee, Jennifer L JL; Scarlett, Cameron O CO; Borchers, Christoph H CH; Jacobson, Ken K; Stutts, M Jackson MJ; Milgram, Sharon L SL
Publication Date: 2007-02

Variant appearance in text: CFTR: W19C
PubMed Link: 17235394
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations.

The Journal Of Molecular Diagnostics : Jmd
Schrijver, Iris I; Oitmaa, Eneli E; Metspalu, Andres A; Gardner, Phyllis P
Publication Date: 2005-08

Variant appearance in text: CFTR: W19C
PubMed Link: 16049310
Variant Present in the following documents:
  • Main text
View BVdb publication page