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CFTR c.548T>C ;(p.L183P)
Variant ID: 7-117174388-T-C
NM_000492.3(
CFTR
):c.548T>C;(p.L183P)
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:
The deviant ATP-binding site of the multidrug efflux pump Pdr5 plays an active role in the transport cycle.
The Journal Of Biological Chemistry
Furman, Christopher C; Mehla, Jitender J; Ananthaswamy, Neeti N; Arya, Nidhi N; Kulesh, Bridget B; Kovach, Ildiko I; Ambudkar, Suresh V SV; Golin, John J
Publication Date: 2013-10-18
Variant appearance in text: CFTR: L183P
PubMed Link:
24019526
Variant Present in the following documents:
Main text
View BVdb publication page
Toward understanding the mechanism of action of the yeast multidrug resistance transporter Pdr5p: a molecular modeling study.
Journal Of Structural Biology
Rutledge, Robert M RM; Esser, Lothar L; Ma, Jichun J; Xia, Di D
Publication Date: 2011-02
Variant appearance in text: CFTR: Leu183Pro
PubMed Link:
21034832
Variant Present in the following documents:
Main text
View BVdb publication page