CFTR c.4042_4044delinsGAG ;(p.H1348E)

Variant ID: 7-117304820-CAT-GAG

NM_000492.3(CFTR):c.4042_4044delinsGAG;(p.H1348E)

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:

Asymmetry of movements in CFTR's two ATP sites during pore opening serves their distinct functions.

Elife
Sorum, Ben B; Töröcsik, Beáta B; Csanády, László L
Publication Date: 2017-09-25

Variant appearance in text: CFTR: H1348E
PubMed Link: 28944753
Variant Present in the following documents:
  • Main text
  • elife-29013.pdf
View BVdb publication page