CFTR c.1219_1221delinsTGT ;(p.E407C)

Variant ID: 7-117188704-GAA-TGT

NM_000492.3(CFTR):c.1219_1221delinsTGT;(p.E407C)

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:

Multiple membrane-cytoplasmic domain contacts in the cystic fibrosis transmembrane conductance regulator (CFTR) mediate regulation of channel gating.

The Journal Of Biological Chemistry
He, Lihua L; Aleksandrov, Andrei A AA; Serohijos, Adrian W R AW; Hegedus, Tamás T; Aleksandrov, Luba A LA; Cui, Liying L; Dokholyan, Nikolay V NV; Riordan, John R JR
Publication Date: 2008-09-26

Variant appearance in text: CFTR: E407C
PubMed Link: 18658148
Variant Present in the following documents:
  • Main text
View BVdb publication page