CFTR c.3121A>G ;(p.K1041E)

Variant ID: 7-117250705-A-G

NM_000492.3(CFTR):c.3121A>G;(p.K1041E)

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:

Functional organization of cytoplasmic portals controlling access to the cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel pore.

The Journal Of Biological Chemistry
Li, Man-Song MS; Cowley, Elizabeth A EA; El Hiani, Yassine Y; Linsdell, Paul P
Publication Date: 2018-04-13

Variant appearance in text: CFTR: K1041E
PubMed Link: 29475947
Variant Present in the following documents:
  • Main text
View BVdb publication page