CFTR c.340_342delinsTGT ;(p.K114C)

Variant ID: 7-117171019-AAG-TGT

NM_000492.3(CFTR):c.340_342delinsTGT;(p.K114C)

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 cystic fibrosis transmembrane conductance regulator is an extracellular chloride sensor.

Pflugers Archiv : European Journal Of Physiology
Broadbent, Steven D SD; Ramjeesingh, Mohabir M; Bear, Christine E CE; Argent, Barry E BE; Linsdell, Paul P; Gray, Michael A MA
Publication Date: 2015-08

Variant appearance in text: CFTR: K114C
PubMed Link: 25277268
Variant Present in the following documents:
  • Main text
View BVdb publication page