HPSE
heparanase
Summary
Heparan sulfate proteoglycans are major components of the basement membrane and extracellular matrix. The protein encoded by this gene is an enzyme that cleaves heparan sulfate proteoglycans to permit cell movement through remodeling of the extracellular matrix. In addition, this cleavage can release bioactive molecules from the extracellular matrix. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
Known Variants56 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs6856901 | 4:84,216,368 | C/G | 3 prime UTR variant | — |
| rs373648825 | 4:84,216,579 | C/T | — | uncertain significance |
| rs200924614 | 4:84,216,580 | G/A | — | uncertain significance |
| rs571906118 | 4:84,216,634 | T/G | — | uncertain significance |
| rs144185023 | 4:84,216,649 | G/A | stop gained | — |
| rs12503843 | 4:84,221,419 | A/G | intron variant | — |
| rs145560091 | 4:84,222,157 | A/C | — | likely benign |
| rs201528090 | 4:84,222,188 | A/G | — | uncertain significance |
| rs199997937 | 4:84,222,191 | C/T | — | likely benign |
| rs11031 | 4:84,222,208 | A/G | — | benign |
| rs756519343 | 4:84,222,233 | G/C | — | uncertain significance |
| rs748371922 | 4:84,223,320 | A/G | — | likely benign |
| rs769279640 | 4:84,223,357 | T/C | — | uncertain significance |
| rs4364254 | 4:84,223,713 | C/T | intron variant | — |
| rs12331678 | 4:84,224,407 | T/A | — | — |
| rs765800808 | 4:84,227,359 | T/A | — | uncertain significance |
| rs766419951 | 4:84,227,396 | C/T | — | uncertain significance |
| rs908239922 | 4:84,227,419 | C/T | — | uncertain significance |
| rs138882001 | 4:84,227,453 | C/T | — | likely benign |
| rs139839221 | 4:84,230,033 | C/T | — | likely benign |
| rs760751826 | 4:84,230,044 | C/T | — | uncertain significance |
| rs186085700 | 4:84,230,604 | T/C | — | uncertain significance |
| rs1300169933 | 4:84,230,616 | T/G | — | uncertain significance |
| rs11099592 | 4:84,230,619 | T/C | missense variant | benign |
| rs2529842870 | 4:84,230,626 | C/T | — | uncertain significance |
| rs1736307630 | 4:84,231,209 | C/G | — | uncertain significance |
| rs781725820 | 4:84,231,221 | C/T | — | uncertain significance |
| rs781076238 | 4:84,231,926 | T/C | — | uncertain significance |
| rs61755719 | 4:84,232,010 | A/C | — | likely benign |
| rs6535455 | 4:84,232,104 | T/A | — | — |
| rs184961893 | 4:84,234,259 | G/T | — | benign |
| rs1452487927 | 4:84,234,293 | T/C | — | uncertain significance |
| rs200013026 | 4:84,234,410 | G/C | — | uncertain significance |
| rs376625431 | 4:84,234,417 | T/C | — | uncertain significance |
| rs4693078 | 4:84,239,096 | G/T | intron variant | — |
| rs75865093 | 4:84,240,515 | T/G | — | benign |
| rs769215132 | 4:84,240,516 | G/A | — | likely benign |
| rs748203430 | 4:84,240,622 | T/C | — | uncertain significance |
| rs12501123 | 4:84,240,654 | G/A | intron variant | — |
| rs4693083 | 4:84,241,316 | T/G | — | — |
| rs4693608 | 4:84,241,357 | G/A | intron variant | benign |
| rs4693084 | 4:84,241,375 | T/A | — | — |
| rs4693609 | 4:84,241,574 | C/T | intron variant | — |
| rs1475488961 | 4:84,243,455 | G/A | — | uncertain significance |
| rs1578023299 | 4:84,243,495 | C/T | — | uncertain significance |
| rs781393849 | 4:84,243,503 | C/T | — | uncertain significance |
| rs4328905 | 4:84,243,549 | A/G | intron variant | — |
| rs1304948879 | 4:84,255,769 | A/G | — | uncertain significance |
| rs1271136021 | 4:84,255,798 | C/G | — | uncertain significance |
| rs1428598283 | 4:84,255,845 | G/C | — | likely benign |
| rs919268172 | 4:84,255,847 | G/C | — | uncertain significance |
| rs1737547129 | 4:84,255,869 | G/A | — | uncertain significance |
| rs1737547718 | 4:84,255,877 | G/C | — | uncertain significance |
| rs889239151 | 4:84,255,890 | G/T | — | uncertain significance |
| rs568749133 | 4:84,255,896 | T/C | — | uncertain significance |
| rs1657125906 | 4:84,255,904 | G/A | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.