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 |
|---|---|---|---|
| RS1553425459 | Health Risk | Likely pathogenic | — |
| RS1558718572 | Health Risk | Likely pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS1573442055 | Health Risk | Likely pathogenic | Thromboembolism, Thromboembolism |
| RS1573444020 | Health Risk | Likely pathogenic | Reduced protein C activity, Reduced protein C activity |
| RS1573461792 | Health Risk | Likely pathogenic | Reduced protein C activity, Reduced protein C activity |
| RS1573461951 | Health Risk | Likely pathogenic | Reduced protein C activity, Reduced protein C activity |
| RS1573462001 | Health Risk | Likely pathogenic | Reduced protein C activity, Reduced protein C activity |
| RS1688667609 | Health Risk | Likely pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS1688677671 | Health Risk | Likely pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS1688706297 | Health Risk | Likely pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS2104954798 | Health Risk | Likely pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS2104954946 | Health Risk | Likely pathogenic | Reduced protein C activity, Reduced protein C activity |
| RS2104984579 | Health Risk | Likely pathogenic | — |
| RS2468337332 | Health Risk | Likely pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS2468340110 | Health Risk | Likely pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS2468365970 | Health Risk | Likely pathogenic | PROC-related disorder, PROC-related disorder |
| RS2468367271 | Health Risk | Likely pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS2468377531 | Health Risk | Likely pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS2468379908 | Health Risk | Likely pathogenic | Hereditary thrombophilia due to congenital protein C deficiency, Hereditary thrombophilia due to congenital protein C deficiency |
| RS369504169 | Health Risk | Likely pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, Thromboembolism |
| RS370813536 | Health Risk | Likely pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS568121876 | Health Risk | Likely pathogenic | Thrombophilia due to protein C deficiency, autosomal recessive, autosomal dominant |
| RS750931702 | Health Risk | Likely pathogenic | — |
| RS754243426 | Health Risk | Likely pathogenic | Reduced protein C activity, Reduced protein C activity |
| RS766261022 | Health Risk | Likely pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, Reduced protein C activity |
| RS777486993 | Health Risk | Likely pathogenic | Deep venous thrombosis, Thrombophilia due to protein C deficiency, autosomal dominant |
| RS1189377845 | Health Risk | Pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, PROC-related disorder |
| RS121918141 | Health Risk | Pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS121918142 | Health Risk | Pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS121918145 | Health Risk | Pathogenic | Thrombophilia due to protein C deficiency, autosomal recessive, autosomal dominant |
| RS121918147 | Health Risk | Pathogenic | Thrombophilia due to protein C deficiency, autosomal recessive, Thrombophilia due to protein C deficiency |
| RS121918151 | Health Risk | Pathogenic | Thrombophilia due to protein C deficiency, autosomal recessive, Thrombophilia due to protein C deficiency |
| RS121918155 | Health Risk | Pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS121918157 | Health Risk | Pathogenic | Thrombophilia due to protein C deficiency, autosomal recessive, Thrombophilia due to protein C deficiency |
| RS121918158 | Health Risk | Pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, Inborn genetic diseases |
| RS121918159 | Health Risk | Pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS1257816310 | Health Risk | Pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS1434042239 | Health Risk | Pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, autosomal recessive |
| RS1456533664 | Health Risk | Pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, autosomal recessive |
| RS1558715857 | Health Risk | Pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS1558715877 | Health Risk | Pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS1688218776 | Health Risk | Pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS1688706133 | Health Risk | Pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS199469478 | Health Risk | Pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS2104934553 | Health Risk | Pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS2104953327 | Health Risk | Pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS2468318751 | Health Risk | Pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS2468324848 | Health Risk | Pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS2468366132 | Health Risk | Pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |
| RS374476971 | Health Risk | Pathogenic | Thrombophilia due to protein C deficiency, autosomal dominant, Thrombophilia due to protein C deficiency |