PLCG2 (NM_002661.5) sequence variants

Editor(s): Michael OMBRELLO   

Home Page Variants list Sequences Download Useful links Statistics Build your graph Contact Submit a novel sequence variant Submit a novel complex allele


  Total According to phenotype
  • Per alteration type
  • Per location
  • Per country




Note: These figures are freely available, however you are kindly requested to quote Infevers.
The following citation format is appropriate: Infevers: an online database for autoinflammatory mutations. Copyright. Available at Accessed ( 2024-07-23 ) together with the following references:

Van Gijn ME, Ceccherini I, Shinar Y, Carbo EC1, Slofstra M4, Arostegui JI, Sarrabay G, Rowczenio D, Omoyımnı E, Balci-Peynircioglu B, Hoffman HM, Milhavet F, Swertz MA, Touitou I.
2018 - J Med Genet.

Touitou I, Milhavet F, Cuisset L.
2014 - J Dermatol Sci. 75(3):208-9.

Milhavet F, Cuisset L, Hoffman H, El-Shanti H, Slim R, Aksentijevich I, Lesage S, Waterham H, Wise C, Sarrauste de Menthière C, Touitou I.
Hum Mutat. 2008 Jun;29(6):803-8.

Touitou I, Lesage S, McDermott M, Cuisset L, Hoffman H, Dode C, Shoham N, Aganna E, Hugot JP, Wise C, Waterham H, Pugnere D, Demaille J, Sarrauste de Menthière C.
2004 - Hum Mutat. 24(3):194-8.

Sarrauste de Menthière C, Terrière S, Pugnère D, Ruiz M, Demaille J, Touitou I.
2003 - Nucleic Acids Res.31(1):282-5.