CFTR c.1378A>T ;(p.T460S)

Variant ID: 7-117188863-A-T

NM_000492.3(CFTR):c.1378A>T;(p.T460S)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Asymmetry of movements in CFTR's two ATP sites during pore opening serves their distinct functions.

Elife
Sorum, Ben B; Töröcsik, Beáta B; Csanády, László L
Publication Date: 2017-09-25

Variant appearance in text: CFTR: T460S
PubMed Link: 28944753
Variant Present in the following documents:
  • Main text
View BVdb publication page


Mutant cycles at CFTR's non-canonical ATP-binding site support little interface separation during gating.

The Journal Of General Physiology
Szollosi, Andras A; Muallem, Daniella R DR; Csanády, László L; Vergani, Paola P
Publication Date: 2011-06

Variant appearance in text: CFTR: T460S
PubMed Link: 21576373
Variant Present in the following documents:
  • Main text
  • JGP_201110608.pdf
View BVdb publication page