KEGG   VARIANT: 5265v1
Entry
5265v1                      Variant                                
Name
SERPINA1 mutation
Type
Loss of function
Gene
SERPINA1  serpin family A member 1 [KO:K03984]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 107400
Network
nt06514  Coagulation cascade
Disease
H01103  Alpha-1-antitrypsin deficiency
H01714  Chronic obstructive pulmonary disease (COPD)
Reference
PMID:32844538
  Authors
de Loyola MB, Dos Reis TTA, de Oliveira GXLM, da Fonseca Palmeira J, Arganaraz GA, Arganaraz ER
  Title
Alpha-1-antitrypsin: A possible host protective factor against Covid-19.
  Journal
Rev Med Virol 31:e2157 (2021)
DOI:10.1002/rmv.2157
Reference
PMID:16278826
  Authors
Chappell S, Daly L, Morgan K, Guetta Baranes T, Roca J, Rabinovich R, Millar A, Donnelly SC, Keatings V, MacNee W, Stolk J, Hiemstra P, Miniati M, Monti S, O'Connor CM, Kalsheker N
  Title
Cryptic haplotypes of SERPINA1 confer susceptibility to chronic obstructive pulmonary disease.
  Journal
Hum Mutat 27:103-9 (2006)
DOI:10.1002/humu.20275
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