CFTR c.1438_1440delinsAAG ;(p.G480K)

Variant ID: 7-117199563-GGT-AAG

NM_000492.3(CFTR):c.1438_1440delinsAAG;(p.G480K)

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:

Topology of transmembrane segments 1-4 in the human chloride/bicarbonate anion exchanger 1 (AE1) by scanning N-glycosylation mutagenesis.

The Biochemical Journal
Cheung, Joanne C JC; Li, Jing J; Reithmeier, Reinhart A F RA
Publication Date: 2005-08-15

Variant appearance in text: CFTR: G480K
PubMed Link: 15804238
Variant Present in the following documents:
  • Main text
View BVdb publication page