SERPINA1 Chromosome 14
Serpin family A member 1
Upload your DNA to see your personal genotypes for variants in SERPINA1.
What This Gene Does
The protein encoded by this gene is a serine protease inhibitor belonging to the serpin superfamily whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. This protein is produced in the liver, the bone marrow, by lymphocytic and monocytic cells in lymphoid tissue, and by the Paneth cells of the gut. Defects in this gene are associated with chronic obstructive pulmonary disease, emphysema, and chronic liver disease. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2020]
Gene Info
Gene Group
Serpin peptidase inhibitors
Locus Type
gene with protein product
Location
14q32.13
Ensembl
ENSG00000197249
Associated Conditions (59)
Alpha-1-antitrypsin deficiency
SERPINA1-related disorder
Inborn genetic diseases
PI CHRISTCHURCH
Hepatocellular carcinoma
Cervical cancer
Lung cancer
Familial cancer of breast
Uterine corpus endometrial carcinoma
Colon adenocarcinoma
Thyroid cancer
nonmedullary
1
Acute myeloid leukemia
PI F
PI Z
PI Z(AUGSBURG)
PI Z(TUN)
FRAXE
Chronic obstructive pulmonary disease
+39 more conditions
Key Variants
RS112030253
Conflicting classifications of pathogenicity
Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency, SERPINA1-related disorder
Health Risk
RS113813309
Conflicting classifications of pathogenicity
Alpha-1-antitrypsin deficiency, Inborn genetic diseases, Alpha-1-antitrypsin deficiency
Health Risk
RS11558258
Conflicting classifications of pathogenicity
Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
Health Risk
RS11575873
Conflicting classifications of pathogenicity
Alpha-1-antitrypsin deficiency, SERPINA1-related disorder, Alpha-1-antitrypsin deficiency
Health Risk
RS121912712
Conflicting classifications of pathogenicity
PI CHRISTCHURCH, Alpha-1-antitrypsin deficiency, SERPINA1-related disorder
Health Risk
RS1243163
Conflicting classifications of pathogenicity
Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
Health Risk
RS1281598461
Conflicting classifications of pathogenicity
Alpha-1-antitrypsin deficiency, Inborn genetic diseases, Alpha-1-antitrypsin deficiency
Health Risk
RS1378794678
Conflicting classifications of pathogenicity
Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
Health Risk
RS138611390
Conflicting classifications of pathogenicity
Alpha-1-antitrypsin deficiency, Inborn genetic diseases, SERPINA1-related disorder
Health Risk
RS139964603
Conflicting classifications of pathogenicity
Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
Health Risk
RS141095970
Conflicting classifications of pathogenicity
Alpha-1-antitrypsin deficiency, SERPINA1-related disorder, Alpha-1-antitrypsin deficiency
Health Risk
RS141620200
Conflicting classifications of pathogenicity
Alpha-1-antitrypsin deficiency, SERPINA1-related disorder, Hepatocellular carcinoma
Health Risk
All Variants (112)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2504776767 | Health Risk | Pathogenic/Likely pathogenic | Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency |
| RS2504776911 | Health Risk | Pathogenic/Likely pathogenic | Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency |
| RS2504784138 | Health Risk | Pathogenic/Likely pathogenic | Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency |
| RS28931569 | Health Risk | Pathogenic/Likely pathogenic | PI M(PROCIDA), Alpha-1-antitrypsin deficiency, See cases |
| RS28931570 | Health Risk | Pathogenic/Likely pathogenic | PI I, Alpha-1-antitrypsin deficiency, SERPINA1-related disorder |
| RS61761869 | Health Risk | Pathogenic/Likely pathogenic | Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency, SERPINA1-related disorder |
| RS751235320 | Health Risk | Pathogenic/Likely pathogenic | PI NULL(WEST), Alpha-1-antitrypsin deficiency, Hepatocellular carcinoma |
| RS764325655 | Health Risk | Pathogenic/Likely pathogenic | Alpha-1-antitrypsin deficiency, PI NULL(BOLTON), PI Q0(BOLTON) |
| RS775786225 | Health Risk | Pathogenic/Likely pathogenic | Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency |
| RS864622043 | Health Risk | Pathogenic/Likely pathogenic | Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency |
| RS921982028 | Health Risk | Pathogenic/Likely pathogenic | Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency |
| RS17580 | Health Risk | Pathogenic/Pathogenic, low penetrance; other | PI S, Alpha-1-antitrypsin deficiency, Chronic obstructive pulmonary disease |