CFTR c.1528_1529delinsCG ;(p.V510R)

Variant ID: 7-117199653-GT-CG

NM_000492.3(CFTR):c.1528_1529delinsCG;(p.V510R)

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:

The V510D suppressor mutation stabilizes DeltaF508-CFTR at the cell surface.

Biochemistry
Loo, Tip W TW; Bartlett, M Claire MC; Clarke, David M DM
Publication Date: 2010-08-03

Variant appearance in text: CFTR: V510R
PubMed Link: 20590134
Variant Present in the following documents:
  • Main text
  • bi100807h.pdf
View BVdb publication page