ENTPD5
ectonucleoside triphosphate diphosphohydrolase 5 (inactive)
Summary
The protein encoded by this gene is similar to E-type nucleotidases (NTPases)/ecto-ATPase/apyrases. NTPases, such as CD39, mediate catabolism of extracellular nucleotides. ENTPD5 contains 4 apyrase-conserved regions which is characteristic of NTPases. [provided by RefSeq, Jan 2009]
Known Variants40 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs189840848 | 14:74,424,852 | C/T | stop gained | pathogenic |
| rs1057519349 | 14:74,424,932 | G/A | stop gained | pathogenic |
| rs1057519350 | 14:74,425,907 | G/A | missense variant | pathogenic |
| rs397514479 | 14:74,428,042 | C/A | missense variant | pathogenic |
| rs753489572 | 14:74,428,202 | A/G | missense variant | pathogenic |
| rs1064796212 | 14:74,428,216 | — | — | pathogenic |
| rs374270071 | 14:74,428,464 | A/G | missense variant | uncertain significance |
| rs1057519351 | 14:74,428,570 | G/A | stop gained | pathogenic |
| rs1057519352 | 14:74,429,678 | — | — | pathogenic |
| rs754533707 | 14:74,433,671 | G/A | — | uncertain significance |
| rs149673221 | 14:74,433,689 | G/A | — | uncertain significance |
| rs1375359811 | 14:74,436,714 | T/G | — | uncertain significance |
| rs2503216939 | 14:74,436,715 | G/C | — | uncertain significance |
| rs373452136 | 14:74,436,806 | G/C | — | uncertain significance |
| rs776501967 | 14:74,439,598 | G/A | — | uncertain significance |
| rs17094448 | 14:74,440,119 | A/G | intron variant | — |
| rs749129541 | 14:74,440,588 | T/C | — | uncertain significance |
| rs777311777 | 14:74,441,642 | C/T | — | uncertain significance |
| rs757024682 | 14:74,442,664 | T/C | — | uncertain significance |
| rs138322972 | 14:74,442,714 | G/A | missense variant | — |
| rs779157866 | 14:74,443,031 | A/G | — | uncertain significance |
| rs768247667 | 14:74,443,067 | C/A | — | uncertain significance |
| rs375628237 | 14:74,443,082 | C/T | — | uncertain significance |
| rs147326645 | 14:74,447,785 | G/C | intron variant | — |
| rs371192523 | 14:74,449,774 | T/C | — | uncertain significance |
| rs573160416 | 14:74,449,852 | C/T | — | uncertain significance |
| rs535670273 | 14:74,453,540 | C/G | — | uncertain significance |
| rs2503423537 | 14:74,453,570 | C/G | — | uncertain significance |
| rs1304298972 | 14:74,454,737 | G/C | — | uncertain significance |
| rs2503440379 | 14:74,454,756 | A/G | — | uncertain significance |
| rs753847731 | 14:74,454,786 | G/A | — | uncertain significance |
| rs753135794 | 14:74,454,801 | G/A | — | uncertain significance |
| rs59429148 | 14:74,467,250 | G/A | intron variant | — |
| rs58102735 | 14:74,467,531 | G/A | intron variant | — |
| rs62005072 | 14:74,470,822 | T/A | — | — |
| rs73301493 | 14:74,472,197 | C/A | intron variant | — |
| rs117818304 | 14:74,474,396 | T/C | intron variant | — |
| rs62005078 | 14:74,480,874 | C/T | intron variant | — |
| rs139712735 | 14:74,486,969 | C/G | upstream gene variant | — |
| rs57731447 | 14:74,487,521 | G/A | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.