CFTR c.1010T>A ;(p.F337Y)

Variant ID: 7-117180294-T-A

NM_000492.3(CFTR):c.1010T>A;(p.F337Y)

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:

Mutation-induced blocker permeability and multiion block of the CFTR chloride channel pore.

The Journal Of General Physiology
Gong, Xiandi X; Linsdell, Paul P
Publication Date: 2003-12

Variant appearance in text: CFTR: F337Y
PubMed Link: 14610019
Variant Present in the following documents:
  • Main text
  • 200308889.pdf
View BVdb publication page


Relationship between anion binding and anion permeability revealed by mutagenesis within the cystic fibrosis transmembrane conductance regulator chloride channel pore.

The Journal Of Physiology
Linsdell, P P
Publication Date: 2001-02-15

Variant appearance in text: CFTR: F337Y
PubMed Link: 11179391
Variant Present in the following documents:
  • Main text
View BVdb publication page