CFTR c.1511A>C ;(p.E504A)

Variant ID: 7-117199636-A-C

NM_000492.3(CFTR):c.1511A>C;(p.E504A)

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:

Dynamics of a bacterial multidrug ABC transporter in the inward- and outward-facing conformations.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Mehmood, Shahid S; Domene, Carmen C; Forest, Eric E; Jault, Jean-Michel JM
Publication Date: 2012-07-03

Variant appearance in text: CFTR: E504A
PubMed Link: 22711831
Variant Present in the following documents:
  • Main text
View BVdb publication page