KEGG   VARIANT: 5624v1
Entry
5624v1                      Variant                                
Name
PROC mutation
Type
Loss of function
Gene
PROC  protein C, inactivator of coagulation factors Va and VIIIa [KO:K01344]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 612283
Network
nt06514  Coagulation cascade
Disease
H00223  Inherited thrombophilia
Reference
  Authors
Zhang Y, Zhang Z, Shu S, Niu W, Xie W, Wan J, Zhai Z, Wang C
  Title
The genetics of venous thromboembolism: a systematic review of thrombophilia families.
  Journal
J Thromb Thrombolysis 51:359-369 (2021)
DOI:10.1007/s11239-020-02203-7
Reference
  Authors
Do MD, Pham DV, Le LP, Gia Le LH, Minh Tran LB, Dang Huynh MD, Do QM, Vu HA, Nguyen NH, Mai TP
  Title
Recurrent PROC and novel PROS1 mutations in Vietnamese patients diagnosed with idiopathic deep venous thrombosis.
  Journal
Int J Lab Hematol 43:266-272 (2021)
DOI:10.1111/ijlh.13345
LinkDB

DBGET integrated database retrieval system