PLCG2 (NM_002661.5) sequence variants

Editor(s): Ivona AKSENTIJEVICH   

Home Page Variants list Sequences Download Useful links Statistics Build your graph Contact Submit a novel sequence variant Submit a novel complex allele
ADA2ADAM17ALPK1AP1S3CARD14CDC42CEBPECOPAELF4F12
IKBKGIL1RNIL36RNLACC1LPIN2LYN
MEFVMVKNCSTNNLRC4NLRP1NLRP12NLRP3NLRP7NOD2OTULIN
PLCG2POMPPSMA3PSMB10PSMB4PSMB8PSMB9PSMG2PSTPIP1
RBCK1RELARIPK1SAMD9LSH3BP2SLC29A3STING1
TNFAIP3TNFRSF11ATNFRSF1ATRAP1TRNT1UBA1WDR1

 

General web sites
LRG LRG_376  
DNA NC_000016.10 GRCh38.p13 ENSG00000197943 GRCh38.p13
  NC_000016.9   GRCh37.p13 ENSG00000197943 GRCh37.p13
  NG_032019.2  
mRNA NM_002661.5 ENST00000564138.6
CCDS CCDS42204.1  
Protein NP_002652.2 ENSP00000482457.1
NCBI Gene 5336  
OMIM Gene 600220  
OMIM 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: