Thrombophilia due to protein C deficiency, autosomal dominant: genes and variants
Thrombophilia due to protein C deficiency, autosomal dominant is linked to 1 analyzed protein (PROC). 50 DNA variants are known to cause it; 125 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: thrombophilia due to protein C deficiency, autosomal recessive
Genes linked to Thrombophilia due to protein C deficiency, autosomal dominant
PROC: Vitamin K-dependent protein C
After activation, protein C limits coagulation by proteolytically inactivating factors Va and VIIIa with protein S as a cofactor. Heterozygous deficiency increases venous-thrombosis risk, while severe biallelic deficiency can cause neonatal purpura fulminans.
50 disease-causing and 125 uncertain variants in PROC are linked to Thrombophilia due to protein C deficiency, autosomal dominant.
Known disease-causing variants in Thrombophilia due to protein C deficiency, autosomal dominant
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| PROC R42H | 42 | Disease-causing (★★) | |
| PROC R42C | 42 | Disease-causing (★★) | |
| PROC R328C | 328 | Peptidase S1 | Disease-causing (★★) |
| PROC R40H | 40 | Disease-causing (★★) | |
| PROC F118L | 118 | EGF-like 1 | Disease-causing (★★) |
| PROC C147Y | 147 | EGF-like 2 | Disease-causing (★★) |
| PROC R211Q | 211 | Disease-causing (★★) | |
| PROC G239R | 239 | Peptidase S1 | Disease-causing (★★) |
| PROC A301T | 301 | Peptidase S1 | Disease-causing (★★) |
| PROC R40C | 40 | Disease-causing (★★) | |
| PROC R211W | 211 | Disease-causing (★★) | |
| PROC C160S | 160 | EGF-like 2 | Disease-causing (★★) |
| PROC P210L | 210 | Disease-causing (★★) | |
| PROC R220W | 220 | Peptidase S1 | Disease-causing (★★) |
| PROC M406I | 406 | Peptidase S1 | Disease-causing (★★) |
| PROC R57W | 57 | Gla | Disease-causing (★★) |
| PROC R220Q | 220 | Peptidase S1 | Disease-causing (★★) |
| PROC D297H | 297 | Peptidase S1 | Disease-causing (★★) |
| PROC P321L | 321 | Peptidase S1 | Disease-causing (★★) |
| PROC V339M | 339 | Peptidase S1 | Disease-causing (★★) |
| PROC D401N | 401 | Peptidase S1 | Disease-causing (★★) |
| PROC R32C | 32 | Disease-causing (★★) | |
| PROC R51C | 51 | Gla | Disease-causing (★★) |
| PROC F181V | 181 | Disease-causing (★★) | |
| PROC S312L | 312 | Peptidase S1 | Disease-causing (★★) |
| PROC V367M | 367 | Peptidase S1 | Disease-causing (★★) |
| PROC R272C | 272 | Peptidase S1 | Disease-causing (★★) |
| PROC A309T | 309 | Peptidase S1 | Disease-causing (★★) |
| PROC D393N | 393 | Peptidase S1 | Disease-causing (★★) |
| PROC R328H | 328 | Peptidase S1 | Disease-causing (★) |
| PROC G423S | 423 | Peptidase S1 | Disease-causing (★) |
| PROC E67K | 67 | Gla | Disease-causing (★) |
| PROC W225R | 225 | Peptidase S1 | Disease-causing (★) |
| PROC H288Y | 288 | Peptidase S1 | Disease-causing (★) |
| PROC L330P | 330 | Peptidase S1 | Disease-causing (★) |
| PROC T340M | 340 | Peptidase S1 | Disease-causing (★) |
| PROC G145S | 145 | EGF-like 2 | Disease-causing (★) |
| PROC R158W | 158 | EGF-like 2 | Disease-causing (★) |
| PROC G128R | 128 | EGF-like 1 | Disease-causing (★) |
| PROC Y166C | 166 | EGF-like 2 | Disease-causing (★) |
| PROC R264G | 264 | Peptidase S1 | Disease-causing (★) |
| PROC H149P | 149 | EGF-like 2 | Disease-causing |
| PROC P289L | 289 | Peptidase S1 | Disease-causing |
| PROC W444C | 444 | Peptidase S1 | Disease-causing |
| PROC G114C | 114 | EGF-like 1 | Disease-causing |
| PROC I445M | 445 | Peptidase S1 | Disease-causing |
| PROC Q226H | 226 | Peptidase S1 | Disease-causing |
| PROC R271W | 271 | Peptidase S1 | Disease-causing |
| PROC G343S | 343 | Peptidase S1 | Disease-causing |
| PROC G324S | 324 | Peptidase S1 | Disease-causing |
Same protein, different disease
- Reduced protein C activity is also caused by PROC variants; they fall mostly in different places as the Thrombophilia due to protein C deficiency, autosomal dominant variants (12 disease-causing).
Diseases related to Thrombophilia due to protein C deficiency, autosomal dominant
- Reduced protein C activity, also linked to PROC
- Deep venous thrombosis, also linked to PROC
- Hereditary thrombophilia due to congenital protein C deficiency, also linked to PROC
Frequently asked questions
Which genes are linked to Thrombophilia due to protein C deficiency, autosomal dominant?
In CATVariant, Thrombophilia due to protein C deficiency, autosomal dominant is linked to 1 analyzed protein: PROC (Vitamin K-dependent protein C).
How many genetic variants are linked to Thrombophilia due to protein C deficiency, autosomal dominant?
189 variants: 50 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 125 are of uncertain significance or have conflicting reports.
Which uncertain variants in Thrombophilia due to protein C deficiency, autosomal dominant look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
Download every variant as CSV · Browse all diseases · Methods · About the Center