CFTR c.3887T>C ;(p.F1296S)

Variant ID: 7-117292909-T-C

NM_000492.3(CFTR):c.3887T>C;(p.F1296S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Allosteric coupling between the intracellular coupling helix 4 and regulatory sites of the first nucleotide-binding domain of CFTR.

Plos One
Dawson, Jennifer E JE; Farber, Patrick J PJ; Forman-Kay, Julie D JD
Publication Date: 2013

Variant appearance in text: CFTR: F1296S
PubMed Link: 24058550
Variant Present in the following documents:
  • Main text
  • pone.0074347.pdf
View BVdb publication page



Involvement of F1296 and N1303 of CFTR in induced-fit conformational change in response to ATP binding at NBD2.

The Journal Of General Physiology
Szollosi, Andras A; Vergani, Paola P; Csanády, László L
Publication Date: 2010-10

Variant appearance in text: CFTR: F1296S
PubMed Link: 20876359
Variant Present in the following documents:
  • Main text
  • JGP_201010434.pdf
View BVdb publication page