CFTR c.1403T>C ;(p.L468P)

Variant ID: 7-117199528-T-C

NM_000492.3(CFTR):c.1403T>C;(p.L468P)

This variant was identified in 1 publication

View GRCh38 version.



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

Publications:

Functional rescue of a misfolded eukaryotic ATP-binding cassette transporter by domain replacement.

The Journal Of Biological Chemistry
Louie, Raymond J RJ; Pagant, Silvere S; Youn, Ji-Young JY; Halliday, John J JJ; Huyer, Gregory G; Michaelis, Susan S; Miller, Elizabeth A EA
Publication Date: 2010-11-12

Variant appearance in text: CFTR: L468P
PubMed Link: 20843810
Variant Present in the following documents:
  • Main text
View BVdb publication page