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CFTR c.2680_2681delinsGC ;(p.N894A)
Variant ID: 7-117243608-AA-GC
NM_000492.3(
CFTR
):c.2680_2681delinsGC;(p.N894A)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Sequence-specific retention and regulated integration of a nascent membrane protein by the endoplasmic reticulum Sec61 translocon.
Molecular Biology Of The Cell
Pitonzo, David D; Yang, Zhongying Z; Matsumura, Yoshihiro Y; Johnson, Arthur E AE; Skach, William R WR
Publication Date: 2009-01
Variant appearance in text: CFTR: N894A
PubMed Link:
19019984
Variant Present in the following documents:
Main text
View BVdb publication page
Most F508del-CFTR is targeted to degradation at an early folding checkpoint and independently of calnexin.
Molecular And Cellular Biology
Farinha, Carlos M CM; Amaral, Margarida D MD
Publication Date: 2005-06
Variant appearance in text: CFTR: N894A
PubMed Link:
15923638
Variant Present in the following documents:
Main text
View BVdb publication page