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CFTR c.3887T>C ;(p.F1296S)
Variant ID: 7-117292909-T-C
NM_000492.3(
CFTR
):c.3887T>C;(p.F1296S)
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:
Allosteric coupling between the intracellular coupling helix 4 and regulatory sites of the first nucleotide-binding domain of CFTR.
Plos One
Dawson, Jennifer E JE; Farber, Patrick J PJ; Forman-Kay, Julie D JD
Publication Date: 2013
Variant appearance in text: CFTR: F1296S
PubMed Link:
24058550
Variant Present in the following documents:
Main text
pone.0074347.pdf
View BVdb publication page
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: F1296S
PubMed Link:
20876359
Variant Present in the following documents:
Main text
JGP_201010434.pdf
View BVdb publication page