CFTR c.649_650inv ;(p.E217S)

Variant ID: 7-117175371-GA-TC

NM_000492.3(CFTR):c.649_650inv;(p.E217S)

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:

Detergent binding explains anomalous SDS-PAGE migration of membrane proteins.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Rath, Arianna A; Glibowicka, Mira M; Nadeau, Vincent G VG; Chen, Gong G; Deber, Charles M CM
Publication Date: 2009-02-10

Variant appearance in text: CFTR: E217S
PubMed Link: 19181854
Variant Present in the following documents:
  • Main text
View BVdb publication page