CFTR c.520_521delinsGC ;(p.K174A)

Variant ID: 7-117174360-AA-GC

NM_000492.3(CFTR):c.520_521delinsGC;(p.K174A)

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:

Antagonistic regulation of cystic fibrosis transmembrane conductance regulator cell surface expression by protein kinases WNK4 and spleen tyrosine kinase.

Molecular And Cellular Biology
Mendes, Ana Isabel AI; Matos, Paulo P; Moniz, Sónia S; Luz, Simão S; Amaral, Margarida D MD; Farinha, Carlos M CM; Jordan, Peter P
Publication Date: 2011-10

Variant appearance in text: CFTR: K174A
PubMed Link: 21807898
Variant Present in the following documents:
  • Main text
View BVdb publication page