CFTR c.1549_1550delinsAT ;(p.Y517I)

Variant ID: 7-117199674-TA-AT

NM_000492.3(CFTR):c.1549_1550delinsAT;(p.Y517I)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Disease-relevant mutations alter amino acid co-evolution networks in the second nucleotide binding domain of CFTR.

Plos One
Ivey, Gabrianne G; Youker, Robert T RT
Publication Date: 2020

Variant appearance in text: CFTR: Y517I
PubMed Link: 31978131
Variant Present in the following documents:
  • Main text
  • pone.0227668.pdf
View BVdb publication page



Requirements for efficient correction of ΔF508 CFTR revealed by analyses of evolved sequences.

Cell
Mendoza, Juan L JL; Schmidt, André A; Li, Qin Q; Nuvaga, Emmanuel E; Barrett, Tyler T; Bridges, Robert J RJ; Feranchak, Andrew P AP; Brautigam, Chad A CA; Thomas, Philip J PJ
Publication Date: 2012-01-20

Variant appearance in text: CFTR: Y517I
PubMed Link: 22265409
Variant Present in the following documents:
  • Main text
View BVdb publication page