CFTR c.223_224delinsGA ;(p.R75E)

Variant ID: 7-117149146-CG-GA

NM_000492.3(CFTR):c.223_224delinsGA;(p.R75E)

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:

The CFTR P67L variant reveals a key role for N-terminal lasso helices in channel folding, maturation, and pharmacologic rescue.

The Journal Of Biological Chemistry
Sabusap, Carleen Mae CM; Joshi, Disha D; Simhaev, Luba L; Oliver, Kathryn E KE; Senderowitz, Hanoch H; van Willigen, Marcel M; Braakman, Ineke I; Rab, Andras A; Sorscher, Eric J EJ; Hong, Jeong S JS
Publication Date: 2021

Variant appearance in text: CFTR: R75E
PubMed Link: 33781744
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page