PLCG2 (NM_002661.3) sequence variants

Editor(s): Ivona AKSENTIJEVICH   

Home Page Tabular list Sequences Download Useful links Statistics Contact Submit a novel sequence variant Submit a novel complex allele

 

General web sites
LRG LRG_376  
DNA NC_000016.9 ENSG00000197943
mRNA NM_002661.3 ENST00000359376
Protein NP_002652.2 ENSP00000352336
MIM Gene 600220  
MIM Disease 614878 614468
     
Nomenclature HGNC  
     

PubMed of the initial paper:

A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2,
causes a dominantly inherited autoinflammatory disease with immunodeficiency.

Zhou Q & al.

 

Other links: