PROC Chromosome 2
Protein C, inactivator of coagulation factors Va and VIIIa
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What This Gene Does
This gene encodes a vitamin K-dependent plasma glycoprotein. The encoded protein is cleaved to its activated form by the thrombin-thrombomodulin complex. This activated form contains a serine protease domain and functions in degradation of the activated forms of coagulation factors V and VIII. Mutations in this gene have been associated with thrombophilia due to protein C deficiency, neonatal purpura fulminans, and recurrent venous thrombosis.[provided by RefSeq, Dec 2009]
Gene Info
Gene Group
"Receptor ligands|Gla domain containing"
Locus Type
gene with protein product
Location
2q14.3
Ensembl
ENSG00000115718
Associated Conditions (12)
Thrombophilia due to protein C deficiency
autosomal dominant
autosomal recessive
PROC-related disorder
Deep venous thrombosis
Reduced protein C activity
Inborn genetic diseases
Thrombophilia 3 due to protein C deficiency
Thromboembolism
Hereditary thrombophilia due to congenital protein C deficiency
Abnormal thrombosis
Cerebral palsy
Key Variants
RS1211098698
Conflicting classifications of pathogenicity
Thrombophilia due to protein C deficiency, autosomal dominant, autosomal recessive
Health Risk
RS121918150
Conflicting classifications of pathogenicity
Thrombophilia due to protein C deficiency, autosomal recessive, autosomal dominant
Health Risk
RS121918156
Conflicting classifications of pathogenicity
Thrombophilia due to protein C deficiency, autosomal recessive, Deep venous thrombosis
Health Risk
RS1247902323
Conflicting classifications of pathogenicity
Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency
Health Risk
RS1284942525
Conflicting classifications of pathogenicity
Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency
Health Risk
RS1305782685
Conflicting classifications of pathogenicity
Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency
Health Risk
RS138057813
Conflicting classifications of pathogenicity
Thrombophilia due to protein C deficiency, autosomal dominant, PROC-related disorder
Health Risk
RS1436671530
Conflicting classifications of pathogenicity
Inborn genetic diseases, Thrombophilia due to protein C deficiency, autosomal dominant
Health Risk
RS1442363621
Conflicting classifications of pathogenicity
Health Risk
RS145800354
Conflicting classifications of pathogenicity
Thrombophilia due to protein C deficiency, autosomal dominant, PROC-related disorder
Health Risk
RS146922325
Conflicting classifications of pathogenicity
Thrombophilia due to protein C deficiency, autosomal dominant, Reduced protein C activity
Health Risk
RS148108718
Conflicting classifications of pathogenicity
Thrombophilia due to protein C deficiency, autosomal dominant, PROC-related disorder
Health Risk
All Variants (126)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1211098698 | Health Risk | Conflicting classifications of pathogenicity | Thrombophilia due to protein C deficiency, autosomal dominant, autosomal recessive |
| RS121918150 | Health Risk | Conflicting classifications of pathogenicity | Thrombophilia due to protein C deficiency, autosomal recessive, autosomal dominant |
| RS121918156 | Health Risk | Conflicting classifications of pathogenicity | Thrombophilia due to protein C deficiency, autosomal recessive, Deep venous thrombosis |
| RS1247902323 | Health Risk | Conflicting classifications of pathogenicity | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS1284942525 | Health Risk | Conflicting classifications of pathogenicity | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS1305782685 | Health Risk | Conflicting classifications of pathogenicity | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS138057813 | Health Risk | Conflicting classifications of pathogenicity | Thrombophilia due to protein C deficiency, autosomal dominant, PROC-related disorder |
| RS1436671530 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Thrombophilia due to protein C deficiency, autosomal dominant |
| RS1442363621 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS145800354 | Health Risk | Conflicting classifications of pathogenicity | Thrombophilia due to protein C deficiency, autosomal dominant, PROC-related disorder |
| RS146922325 | Health Risk | Conflicting classifications of pathogenicity | Thrombophilia due to protein C deficiency, autosomal dominant, Reduced protein C activity |
| RS148108718 | Health Risk | Conflicting classifications of pathogenicity | Thrombophilia due to protein C deficiency, autosomal dominant, PROC-related disorder |
| RS148490199 | Health Risk | Conflicting classifications of pathogenicity | Thrombophilia due to protein C deficiency, autosomal dominant, PROC-related disorder |
| RS151319700 | Health Risk | Conflicting classifications of pathogenicity | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS1688487502 | Health Risk | Conflicting classifications of pathogenicity | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS1688669245 | Health Risk | Conflicting classifications of pathogenicity | Thrombophilia due to protein C deficiency, autosomal dominant, Inborn genetic diseases |
| RS1688692269 | Health Risk | Conflicting classifications of pathogenicity | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS1688692415 | Health Risk | Conflicting classifications of pathogenicity | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS199469469 | Health Risk | Conflicting classifications of pathogenicity | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS199469474 | Health Risk | Conflicting classifications of pathogenicity | Reduced protein C activity, Thrombophilia due to protein C deficiency, autosomal dominant |
| RS200660332 | Health Risk | Conflicting classifications of pathogenicity | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS2069936 | Health Risk | Conflicting classifications of pathogenicity | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS370086431 | Health Risk | Conflicting classifications of pathogenicity | Thrombophilia due to protein C deficiency, autosomal dominant, autosomal recessive |
| RS41269833 | Health Risk | Conflicting classifications of pathogenicity | Thrombophilia due to protein C deficiency, autosomal dominant, autosomal recessive |
| RS548020208 | Health Risk | Conflicting classifications of pathogenicity | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS571278160 | Health Risk | Conflicting classifications of pathogenicity | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS572021052 | Health Risk | Conflicting classifications of pathogenicity | Thrombophilia due to protein C deficiency, autosomal dominant, Reduced protein C activity |
| RS748650244 | Health Risk | Conflicting classifications of pathogenicity | Thrombophilia due to protein C deficiency, autosomal dominant, PROC-related disorder |
| RS753436021 | Health Risk | Conflicting classifications of pathogenicity | Thrombophilia due to protein C deficiency, autosomal dominant, autosomal recessive |
| RS756467027 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS759229398 | Health Risk | Conflicting classifications of pathogenicity | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS764808999 | Health Risk | Conflicting classifications of pathogenicity | Thrombophilia due to protein C deficiency, autosomal dominant, autosomal recessive |
| RS767626189 | Health Risk | Conflicting classifications of pathogenicity | Thrombophilia due to protein C deficiency, autosomal dominant, PROC-related disorder |
| RS769277939 | Health Risk | Conflicting classifications of pathogenicity | Reduced protein C activity, Thrombophilia due to protein C deficiency, autosomal recessive |
| RS770534863 | Health Risk | Conflicting classifications of pathogenicity | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS771095734 | Health Risk | Conflicting classifications of pathogenicity | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS776905824 | Health Risk | Conflicting classifications of pathogenicity | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS886054848 | Health Risk | Conflicting classifications of pathogenicity | Thrombophilia due to protein C deficiency, autosomal dominant, autosomal recessive |
| RS1186036467 | Health Risk | Likely pathogenic | Reduced protein C activity, Reduced protein C activity |
| RS121918144 | Health Risk | Likely pathogenic | Thrombophilia due to protein C deficiency, autosomal recessive, Thrombophilia due to protein C deficiency |
| RS1247269491 | Health Risk | Likely pathogenic | Reduced protein C activity, Thrombophilia due to protein C deficiency, autosomal dominant |
| RS1254257945 | Health Risk | Likely pathogenic | Reduced protein C activity, Reduced protein C activity |
| RS1272440643 | Health Risk | Likely pathogenic | — |
| RS1277271891 | Health Risk | Likely pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS140582220 | Health Risk | Likely pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS1448630830 | Health Risk | Likely pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS1458669732 | Health Risk | Likely pathogenic | Reduced protein C activity, Reduced protein C activity |
| RS1553423061 | Health Risk | Likely pathogenic | — |
| RS1553423955 | Health Risk | Likely pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS1553424043 | Health Risk | Likely pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, Thromboembolism |