CFTR c.2147A>G ;(p.K716R)

Variant ID: 7-117232368-A-G

NM_000492.3(CFTR):c.2147A>G;(p.K716R)

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:

Interference with ubiquitination in CFTR modifies stability of core glycosylated and cell surface pools.

Molecular And Cellular Biology
Lee, Seakwoo S; Henderson, Mark J MJ; Schiffhauer, Eric E; Despanie, Jordan J; Henry, Katherine K; Kang, Po Wei PW; Walker, Douglas D; McClure, Michelle L ML; Wilson, Landon L; Sorscher, Eric J EJ; Zeitlin, Pamela L PL
Publication Date: 2014-07

Variant appearance in text: CFTR: K716R
PubMed Link: 24777605
Variant Present in the following documents:
  • Main text
View BVdb publication page