CFTR c.2837A>G ;(p.K946R)

Variant ID: 7-117243765-A-G

NM_000492.3(CFTR):c.2837A>G;(p.K946R)

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:

COMMD1-mediated ubiquitination regulates CFTR trafficking.

Plos One
Drévillon, Loïc L; Tanguy, Gaëlle G; Hinzpeter, Alexandre A; Arous, Nicole N; de Becdelièvre, Alix A; Aissat, Abdel A; Tarze, Agathe A; Goossens, Michel M; Fanen, Pascale P
Publication Date: 2011-03-31

Variant appearance in text: CFTR: K946R
PubMed Link: 21483833
Variant Present in the following documents:
  • Main text
  • pone.0018334.pdf
View BVdb publication page