CFTR c.1117_1119delinsTAA ;(p.D373*)

Variant ID: 7-117182070-GAT-TAA

NM_000492.3(CFTR):c.1117_1119delinsTAA;(p.D373*)

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:

Molecular Mechanism of Action of Trimethylangelicin Derivatives as CFTR Modulators.

Frontiers In Pharmacology
Laselva, Onofrio O; Marzaro, Giovanni G; Vaccarin, Christian C; Lampronti, Ilaria I; Tamanini, Anna A; Lippi, Giuseppe G; Gambari, Roberto R; Cabrini, Giulio G; Bear, Christine E CE; Chilin, Adriana A; Dechecchi, Maria C MC
Publication Date: 2018

Variant appearance in text: CFTR: D373X
PubMed Link: 30022950
Variant Present in the following documents:
  • Main text
  • fphar-09-00719.pdf
View BVdb publication page