CFTR c.1729_1731delinsGAG ;(p.Y577E)

Variant ID: 7-117230456-TAC-GAG

NM_000492.3(CFTR):c.1729_1731delinsGAG;(p.Y577E)

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:

Deletion of Phenylalanine 508 in the First Nucleotide-binding Domain of the Cystic Fibrosis Transmembrane Conductance Regulator Increases Conformational Exchange and Inhibits Dimerization.

The Journal Of Biological Chemistry
Chong, P Andrew PA; Farber, Patrick J PJ; Vernon, Robert M RM; Hudson, Rhea P RP; Mittermaier, Anthony K AK; Forman-Kay, Julie D JD
Publication Date: 2015-09-18

Variant appearance in text: CFTR: Y577E
PubMed Link: 26149808
Variant Present in the following documents:
  • Main text
View BVdb publication page