PROS1
protein S
Summary
This gene encodes a vitamin K-dependent plasma protein that functions as a cofactor for the anticoagulant protease, activated protein C (APC) to inhibit blood coagulation. It is found in plasma in both a free, functionally active form and also in an inactive form complexed with C4b-binding protein. Mutations in this gene result in autosomal dominant hereditary thrombophilia. An inactive pseudogene of this locus is located at an adjacent region on chromosome 3. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Oct 2015]
Known Variants416 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1708129293 | 3:93,591,894 | G/C | — | uncertain significance |
| rs1708129465 | 3:93,591,903 | G/A | — | uncertain significance |
| rs886058922 | 3:93,591,950 | G/T | — | uncertain significance |
| rs779418455 | 3:93,591,986 | T/C | — | uncertain significance |
| rs1708131875 | 3:93,592,007 | T/C | — | uncertain significance |
| rs546710591 | 3:93,592,043 | A/G | — | uncertain significance |
| rs1708133064 | 3:93,592,075 | A/G | — | uncertain significance |
| rs538711279 | 3:93,592,097 | A/C | — | likely benign |
| rs538178021 | 3:93,592,117 | G/A | — | uncertain significance |
| rs1708135152 | 3:93,592,202 | G/T | — | uncertain significance |
| rs137965257 | 3:93,592,306 | G/A | — | uncertain significance |
| rs538937681 | 3:93,592,352 | C/G | — | uncertain significance |
| rs886058923 | 3:93,592,375 | A/G | — | uncertain significance |
| rs189450409 | 3:93,592,396 | C/T | — | uncertain significance |
| rs550909963 | 3:93,592,403 | C/T | — | uncertain significance |
| rs925792694 | 3:93,592,539 | C/T | — | uncertain significance |
| rs9681204 | 3:93,592,569 | T/G | — | benign |
| rs147496684 | 3:93,592,620 | T/G | — | likely benign |
| rs539871594 | 3:93,592,635 | C/T | — | likely benign |
| rs770100925 | 3:93,592,667 | C/A | — | uncertain significance |
| rs1576170245 | 3:93,592,704 | T/C | — | uncertain significance |
| rs138546241 | 3:93,592,709 | T/A | — | likely benign |
| rs144135580 | 3:93,592,719 | C/T | — | uncertain significance |
| rs569117154 | 3:93,592,788 | T/C | — | uncertain significance |
| rs182088150 | 3:93,592,892 | G/A | — | likely benign |
| rs534064879 | 3:93,592,934 | A/T | — | uncertain significance |
| rs886058924 | 3:93,592,970 | A/G | — | uncertain significance |
| rs886058925 | 3:93,593,003 | A/G | — | uncertain significance |
| rs267606981 | 3:93,593,089 | T/A | stop lost | pathogenic |
| rs1465989734 | 3:93,593,102 | G/T | — | uncertain significance |
| rs886058926 | 3:93,593,117 | G/A | — | uncertain significance |
| rs6123 | 3:93,593,119 | C/T | — | benign |
| rs1559926604 | 3:93,593,122 | A/T | — | pathogenic |
| rs1302089144 | 3:93,593,124 | A/G | — | pathogenic |
| rs778685576 | 3:93,593,126 | G/A | — | uncertain significance |
| rs147324335 | 3:93,593,130 | G/A | — | uncertain significance |
| rs141122478 | 3:93,593,139 | T/C | — | uncertain significance |
| rs1576170541 | 3:93,593,147 | T/C | — | uncertain significance |
| rs1193075151 | 3:93,593,160 | C/T | — | uncertain significance |
| rs1576170554 | 3:93,593,164 | A/C | — | uncertain significance |
| rs2472099899 | 3:93,593,166 | C/A | — | likely pathogenic |
| rs1349900185 | 3:93,593,182 | A/G | — | likely benign |
| rs555902969 | 3:93,593,183 | C/T | — | uncertain significance |
| rs776022988 | 3:93,593,184 | C/A | — | uncertain significance |
| rs1708152510 | 3:93,593,201 | A/G | — | pathogenic |
| rs1576170616 | 3:93,593,204 | C/T | — | pathogenic |
| rs368173480 | 3:93,593,213 | T/C | — | uncertain significance |
| rs2107120174 | 3:93,593,216 | A/G | — | likely pathogenic |
| rs751777823 | 3:93,593,218 | G/A | — | likely benign |
| rs1708153020 | 3:93,593,229 | G/A | — | uncertain significance |
| rs202190731 | 3:93,593,231 | G/A | — | uncertain significance |
| rs1708153549 | 3:93,593,242 | T/C | — | likely benign |
| rs1708153590 | 3:93,593,244 | G/A | — | uncertain significance |
| rs2107120223 | 3:93,593,250 | C/T | — | pathogenic |
| rs2107120227 | 3:93,593,251 | T/C | — | pathogenic |
| rs754929347 | 3:93,593,263 | A/C | — | uncertain significance |
| rs2472100106 | 3:93,593,267 | T/C | — | likely benign |
| rs148724533 | 3:93,593,512 | G/A | — | benign |
| rs143431856 | 3:93,595,615 | T/A | — | benign |
| rs1238611469 | 3:93,595,797 | A/G | — | likely benign |
| rs780859898 | 3:93,595,809 | C/G | — | pathogenic |
| rs746331652 | 3:93,595,814 | A/G | — | likely benign |
| rs2107124933 | 3:93,595,815 | A/G | — | uncertain significance |
| rs2107124945 | 3:93,595,817 | G/A | — | likely benign |
| rs2107124949 | 3:93,595,818 | C/A | — | likely pathogenic |
| rs2107124955 | 3:93,595,819 | C/T | — | uncertain significance |
| rs1559927373 | 3:93,595,823 | C/T | — | likely benign |
| rs2472104168 | 3:93,595,824 | A/G | — | uncertain significance |
| rs2107124973 | 3:93,595,831 | T/C | — | uncertain significance |
| rs145711536 | 3:93,595,833 | G/A | — | uncertain significance |
| rs761946767 | 3:93,595,840 | T/C | — | uncertain significance |
| rs750531364 | 3:93,595,848 | A/G | — | conflicting classifications of pathogenicity |
| rs2107125044 | 3:93,595,860 | A/G | — | uncertain significance |
| rs371885410 | 3:93,595,864 | C/T | — | uncertain significance |
| rs758204799 | 3:93,595,865 | G/A | — | likely benign |
| rs2107125076 | 3:93,595,869 | A/C | — | uncertain significance |
| rs2472104364 | 3:93,595,878 | T/C | — | uncertain significance |
| rs1708200748 | 3:93,595,906 | T/G | — | uncertain significance |
| rs142846443 | 3:93,595,918 | T/C | — | conflicting classifications of pathogenicity |
| rs200228050 | 3:93,595,920 | G/A | — | uncertain significance |
| rs772250170 | 3:93,595,928 | C/T | — | conflicting classifications of pathogenicity |
| rs139479630 | 3:93,595,933 | T/G | — | uncertain significance |
| rs528604865 | 3:93,595,953 | T/A | — | uncertain significance |
| rs763898193 | 3:93,595,954 | C/A | — | pathogenic |
| rs2472104578 | 3:93,595,956 | A/G | — | uncertain significance |
| rs571916140 | 3:93,595,967 | T/C | — | likely benign |
| rs755684845 | 3:93,595,972 | C/T | — | uncertain significance |
| rs566166669 | 3:93,595,973 | G/A | — | conflicting classifications of pathogenicity |
| rs2472104636 | 3:93,595,977 | C/T | — | uncertain significance |
| rs1380889353 | 3:93,595,996 | T/A | — | likely pathogenic |
| rs377174703 | 3:93,595,998 | C/T | — | uncertain significance |
| rs121918476 | 3:93,595,999 | G/A | missense variant | pathogenic |
| rs199469503 | 3:93,596,000 | A/T | stop gained | pathogenic |
| rs776594061 | 3:93,596,026 | A/G | — | likely benign |
| rs774397005 | 3:93,596,043 | G/A | — | likely benign |
| rs374688768 | 3:93,596,049 | C/T | — | likely benign |
| rs369284039 | 3:93,597,989 | G/T | — | likely benign |
| rs146913514 | 3:93,598,003 | T/A | — | conflicting classifications of pathogenicity |
| rs1445245201 | 3:93,598,010 | T/C | — | likely benign |
| rs773166529 | 3:93,598,022 | G/A | — | likely benign |
Showing 100 of 416 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.