CFTR c.2932_2933delinsCC ;(p.K978P)

Variant ID: 7-117246751-AA-CC

NM_000492.3(CFTR):c.2932_2933delinsCC;(p.K978P)

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:

Converting nonhydrolyzable nucleotides to strong cystic fibrosis transmembrane conductance regulator (CFTR) agonists by gain of function (GOF) mutations.

The Journal Of Biological Chemistry
Okeyo, George G; Wang, Wei W; Wei, Shipeng S; Kirk, Kevin L KL
Publication Date: 2013-06-14

Variant appearance in text: CFTR: K978P
PubMed Link: 23620589
Variant Present in the following documents:
  • Main text
View BVdb publication page