CFTR c.1420_1422delinsTGT ;(p.E474C)

Variant ID: 7-117199545-GAA-TGT

NM_000492.3(CFTR):c.1420_1422delinsTGT;(p.E474C)

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:

Processing mutations disrupt interactions between the nucleotide binding and transmembrane domains of P-glycoprotein and the cystic fibrosis transmembrane conductance regulator (CFTR).

The Journal Of Biological Chemistry
Loo, Tip W TW; Bartlett, M Claire MC; Clarke, David M DM
Publication Date: 2008-10-17

Variant appearance in text: CFTR: E474C
PubMed Link: 18708637
Variant Present in the following documents:
  • Main text
View BVdb publication page