CFTR c.46_48delinsGAG ;(p.F16E)

Variant ID: 7-117120194-TTT-GAG

NM_000492.3(CFTR):c.46_48delinsGAG;(p.F16E)

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:

Biochemical basis of the interaction between cystic fibrosis transmembrane conductance regulator and immunoglobulin-like repeats of filamin.

The Journal Of Biological Chemistry
Smith, Laura L; Page, Richard C RC; Xu, Zhen Z; Kohli, Ekta E; Litman, Paul P; Nix, Jay C JC; Ithychanda, Sujay S SS; Liu, Jianmin J; Qin, Jun J; Misra, Saurav S; Liedtke, Carole M CM
Publication Date: 2010-05-28

Variant appearance in text: CFTR: F16E
PubMed Link: 20351101
Variant Present in the following documents:
  • Main text
View BVdb publication page