CFTR c.3520A>T ;(p.K1174*)

Variant ID: 7-117267627-A-T

NM_000492.3(CFTR):c.3520A>T;(p.K1174*)

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:

Cigarette Smoke Exposure Induces Retrograde Trafficking of CFTR to the Endoplasmic Reticulum.

Scientific Reports
Marklew, Abigail J AJ; Patel, Waseema W; Moore, Patrick J PJ; Tan, Chong D CD; Smith, Amanda J AJ; Sassano, M Flori MF; Gray, Michael A MA; Tarran, Robert R
Publication Date: 2019-09-20

Variant appearance in text: CFTR: K1174X
PubMed Link: 31541117
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_49544.pdf
View BVdb publication page