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CFTR c.3907_3909delinsCAA ;(p.N1303Q)
Variant ID: 7-117292929-AAC-CAA
NM_000492.3(
CFTR
):c.3907_3909delinsCAA;(p.N1303Q)
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:
Involvement of F1296 and N1303 of CFTR in induced-fit conformational change in response to ATP binding at NBD2.
The Journal Of General Physiology
Szollosi, Andras A; Vergani, Paola P; Csanády, László L
Publication Date: 2010-10
Variant appearance in text: CFTR: N1303Q
PubMed Link:
20876359
Variant Present in the following documents:
Main text
JGP_201010434.pdf
View BVdb publication page