CFTR c.1870_1871delinsGC ;(p.S624A)

Variant ID: 7-117232091-AG-GC

NM_000492.3(CFTR):c.1870_1871delinsGC;(p.S624A)

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:

C terminus of nucleotide binding domain 1 contains critical features for cystic fibrosis transmembrane conductance regulator trafficking and activation.

The Journal Of Biological Chemistry
Billet, Arnaud A; Melin, Patricia P; Jollivet, Mathilde M; Mornon, Jean-Paul JP; Callebaut, Isabelle I; Becq, Frédéric F
Publication Date: 2010-07-16

Variant appearance in text: CFTR: S624A
PubMed Link: 20435887
Variant Present in the following documents:
  • Main text
View BVdb publication page