VARIANT: 710v1
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Entry
710v1 Variant
Name
SERPING1 mutation
Type
Loss of function
Gene
SERPING1
serpin family G member 1 [KO:
K04001
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
606860
Network
nt06513
Complement cascade
nt06514
Coagulation cascade
Disease
H00106
Complement regulatory protein defects
H01006
Hereditary angioedema
Reference
PMID:
7883978
Authors
Zahedi R, Bissler JJ, Davis AE 3rd, Andreadis C, Wisnieski JJ
Title
Unique C1 inhibitor dysfunction in a kindred without angioedema. II. Identification of an Ala443-->Val substitution and functional analysis of the recombinant mutant protein.
Journal
J Clin Invest 95:1299-305 (1995)
DOI:
10.1172/JCI117780
Reference
PMID:
30656274
Authors
Levi M, Cohn DM, Zeerleder S
Title
Hereditary angioedema: Linking complement regulation to the coagulation system.
Journal
Res Pract Thromb Haemost 3:38-43 (2019)
DOI:
10.1002/rth2.12175
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