CFTR c.2186A>C ;(p.D729A)

Variant ID: 7-117232407-A-C

NM_000492.3(CFTR):c.2186A>C;(p.D729A)

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:

Inhibiting endoplasmic reticulum (ER)-associated degradation of misfolded Yor1p does not permit ER export despite the presence of a diacidic sorting signal.

Molecular Biology Of The Cell
Pagant, Silvere S; Kung, Leslie L; Dorrington, Mariana M; Lee, Marcus C S MC; Miller, Elizabeth A EA
Publication Date: 2007-09

Variant appearance in text: CFTR: D729A
PubMed Link: 17615300
Variant Present in the following documents:
  • Main text
View BVdb publication page