CFTR c.3760_3761delinsGC ;(p.L1254A)

Variant ID: 7-117282534-TT-GC

NM_000492.3(CFTR):c.3760_3761delinsGC;(p.L1254A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Disease-relevant mutations alter amino acid co-evolution networks in the second nucleotide binding domain of CFTR.

Plos One
Ivey, Gabrianne G; Youker, Robert T RT
Publication Date: 2020

Variant appearance in text: CFTR: L1254A
PubMed Link: 31978131
Variant Present in the following documents:
  • Main text
  • pone.0227668.pdf
View BVdb publication page



ATP and AMP mutually influence their interaction with the ATP-binding cassette (ABC) adenylate kinase cystic fibrosis transmembrane conductance regulator (CFTR) at separate binding sites.

The Journal Of Biological Chemistry
Randak, Christoph O CO; Dong, Qian Q; Ver Heul, Amanda R AR; Elcock, Adrian H AH; Welsh, Michael J MJ
Publication Date: 2013-09-20

Variant appearance in text: CFTR: L1254A
PubMed Link: 23921386
Variant Present in the following documents:
  • Main text
  • zbc27692.pdf
View BVdb publication page



A mutation in CFTR modifies the effects of the adenylate kinase inhibitor Ap5A on channel gating.

Biophysical Journal
Dong, Qian Q; Randak, Christoph O CO; Welsh, Michael J MJ
Publication Date: 2008-12

Variant appearance in text: CFTR: L1254A
PubMed Link: 18805924
Variant Present in the following documents:
  • Main text
View BVdb publication page