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PRRT2 c.726C>A ;(p.S242R)
Variant ID: 16-29825101-C-A
NM_145239.2(
PRRT2
):c.726C>A;(p.S242R)
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:
PHOrming the inflammasome: phosphorylation is a critical switch in inflammasome signalling.
Biochemical Society Transactions
McKee, Chloe M CM; Fischer, Fabian A FA; Bezbradica, Jelena S JS; Coll, Rebecca C RC
Publication Date: 2021-12-17
Variant appearance in text: PKC: Ser242Arg
PubMed Link:
34854899
Variant Present in the following documents:
Main text
BST-49-2495.pdf
View BVdb publication page
PHOrming the inflammasome: phosphorylation is a critical switch in inflammasome signalling.
Biochemical Society Transactions
McKee, Chloe M CM; Fischer, Fabian A FA; Bezbradica, Jelena S JS; Coll, Rebecca C RC
Publication Date: 2021-12-02
Variant appearance in text: PKC: Ser242Arg
PubMed Link:
34854899
Variant Present in the following documents:
Main text
BST-49-2495.pdf
View BVdb publication page
Pyrin dephosphorylation is sufficient to trigger inflammasome activation in familial Mediterranean fever patients.
Embo Molecular Medicine
Magnotti, Flora F; Lefeuvre, Lucie L; Benezech, Sarah S; Malsot, Tiphaine T; Waeckel, Louis L; Martin, Amandine A; Kerever, Sébastien S; Chirita, Daria D; Desjonqueres, Marine M; Duquesne, Agnès A; Gerfaud-Valentin, Mathieu M; Laurent, Audrey A; Sève, Pascal P; Popoff, Michel-Robert MR; Walzer, Thierry T; Belot, Alexandre A; Jamilloux, Yvan Y; Henry, Thomas T
Publication Date: 2019-11-07
Variant appearance in text: PKC: S242R
PubMed Link:
31589380
Variant Present in the following documents:
EMMM-11-e10547-s010.pdf
EMMM-11-e10547-s001.pdf
View BVdb publication page