HGFAC
HGF activator
Summary
This gene encodes a member of the peptidase S1 protein family. The encoded protein is first synthesized as an inactive single-chain precursor before being activated to a heterodimeric form by endoproteolytic processing. It acts as serine protease that converts hepatocyte growth factor to the active form. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Known Variants72 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs748884956 | 4:3,443,768 | C/G | — | uncertain significance |
| rs767256678 | 4:3,443,789 | C/T | — | uncertain significance |
| rs566473492 | 4:3,443,792 | C/T | — | uncertain significance |
| rs1221607818 | 4:3,443,802 | T/A | — | uncertain significance |
| rs751880011 | 4:3,444,466 | C/T | — | uncertain significance |
| rs777370532 | 4:3,444,493 | C/T | — | likely benign |
| rs1329756322 | 4:3,444,559 | C/T | — | uncertain significance |
| rs140025700 | 4:3,444,588 | C/T | — | uncertain significance |
| rs149401735 | 4:3,444,592 | C/G | — | likely benign |
| rs556671223 | 4:3,444,815 | C/T | — | uncertain significance |
| rs368174451 | 4:3,444,816 | G/A | — | uncertain significance |
| rs763474750 | 4:3,444,821 | G/A | — | uncertain significance |
| rs759364423 | 4:3,444,849 | C/T | — | uncertain significance |
| rs758358291 | 4:3,444,854 | G/A | — | uncertain significance |
| rs926429571 | 4:3,445,076 | C/T | — | uncertain significance |
| rs1368167197 | 4:3,445,092 | C/A | — | uncertain significance |
| rs550238694 | 4:3,445,093 | C/T | — | uncertain significance |
| rs2109296009 | 4:3,445,787 | C/G | — | uncertain significance |
| rs190628296 | 4:3,445,802 | A/G | — | uncertain significance |
| rs1725403696 | 4:3,445,808 | G/T | — | uncertain significance |
| rs555694497 | 4:3,445,823 | C/A | — | uncertain significance |
| rs917199559 | 4:3,445,870 | G/A | — | uncertain significance |
| rs762495700 | 4:3,446,094 | C/T | — | uncertain significance |
| rs369335941 | 4:3,446,101 | G/A | — | likely benign |
| rs1275426207 | 4:3,446,113 | T/A | — | uncertain significance |
| rs1167649648 | 4:3,446,134 | G/A | — | uncertain significance |
| rs141551121 | 4:3,446,415 | G/A | — | uncertain significance |
| rs748101009 | 4:3,446,558 | G/A | — | uncertain significance |
| rs753187984 | 4:3,446,588 | G/A | — | uncertain significance |
| rs534595424 | 4:3,446,593 | G/T | — | uncertain significance |
| rs748995859 | 4:3,446,612 | C/T | — | uncertain significance |
| rs773239142 | 4:3,446,641 | G/A | — | uncertain significance |
| rs375562342 | 4:3,446,680 | G/A | — | likely benign |
| rs746976598 | 4:3,446,696 | G/A | — | uncertain significance |
| rs545303850 | 4:3,446,702 | G/A | — | uncertain significance |
| rs142652510 | 4:3,447,042 | C/T | — | uncertain significance |
| rs527370960 | 4:3,447,289 | A/G | — | — |
| rs558422332 | 4:3,447,819 | G/A | — | uncertain significance |
| rs776274305 | 4:3,447,835 | G/A | — | uncertain significance |
| rs201570052 | 4:3,447,879 | C/T | — | uncertain significance |
| rs755798844 | 4:3,447,936 | G/C | — | uncertain significance |
| rs1312849727 | 4:3,447,951 | G/A | — | likely benign |
| rs369079003 | 4:3,447,966 | G/A | — | uncertain significance |
| rs1233588440 | 4:3,447,973 | T/C | — | uncertain significance |
| rs547774238 | 4:3,447,982 | C/G | — | uncertain significance |
| rs748135083 | 4:3,448,002 | G/A | — | uncertain significance |
| rs775909849 | 4:3,449,220 | C/A | — | uncertain significance |
| rs368838704 | 4:3,449,233 | G/A | — | uncertain significance |
| rs746003601 | 4:3,449,266 | A/G | — | uncertain significance |
| rs748662990 | 4:3,449,275 | C/T | — | uncertain significance |
| rs143981206 | 4:3,449,284 | C/T | — | uncertain significance |
| rs141802412 | 4:3,449,315 | G/A | — | likely benign |
| rs996248421 | 4:3,449,323 | T/C | — | uncertain significance |
| rs368756601 | 4:3,449,329 | C/T | — | uncertain significance |
| rs201196516 | 4:3,449,630 | C/T | — | uncertain significance |
| rs16844401 | 4:3,449,652 | G/T | missense variant | — |
| rs757663166 | 4:3,449,664 | G/A | — | uncertain significance |
| rs146026447 | 4:3,449,667 | C/T | — | uncertain significance |
| rs752229136 | 4:3,449,736 | T/C | — | uncertain significance |
| rs557625670 | 4:3,449,739 | C/T | — | uncertain significance |
| rs750170019 | 4:3,449,857 | G/A | — | uncertain significance |
| rs375519640 | 4:3,449,881 | C/T | — | uncertain significance |
| rs767158380 | 4:3,449,908 | G/A | — | uncertain significance |
| rs140690119 | 4:3,449,926 | C/T | — | uncertain significance |
| rs769058964 | 4:3,449,944 | G/A | — | uncertain significance |
| rs777106024 | 4:3,449,945 | A/C | — | uncertain significance |
| rs138538142 | 4:3,449,963 | T/G | — | uncertain significance |
| rs2474945356 | 4:3,450,967 | G/A | — | uncertain significance |
| rs772637671 | 4:3,451,030 | T/C | — | uncertain significance |
| rs149409175 | 4:3,451,073 | C/G | — | uncertain significance |
| rs374846787 | 4:3,451,076 | G/A | — | uncertain significance |
| rs199995558 | 4:3,451,115 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.