INPP5A
inositol polyphosphate-5-phosphatase A
Summary
The protein encoded by this gene is a membrane-associated type I inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. [provided by RefSeq, Jul 2008]
Known Variants33 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs764513704 | 10:134,351,622 | C/T | — | uncertain significance |
| rs751836665 | 10:134,351,625 | G/A | — | uncertain significance |
| rs757827008 | 10:134,351,629 | C/T | — | uncertain significance |
| rs2133234788 | 10:134,351,634 | G/T | — | uncertain significance |
| rs56137952 | 10:134,376,691 | G/A | intron variant | — |
| rs187478119 | 10:134,405,843 | G/A | intron variant | — |
| rs80172487 | 10:134,417,837 | A/T | — | — |
| rs754683408 | 10:134,421,447 | G/A | — | uncertain significance |
| rs183730210 | 10:134,428,852 | G/A | intron variant | — |
| rs547822867 | 10:134,459,375 | G/A | — | uncertain significance |
| rs1133400 | 10:134,459,388 | A/G | missense variant | — |
| rs2503162691 | 10:134,459,412 | G/C | — | uncertain significance |
| rs374023761 | 10:134,459,437 | C/T | — | likely benign |
| rs1408131806 | 10:134,459,460 | A/G | — | uncertain significance |
| rs775995236 | 10:134,463,950 | G/A | — | uncertain significance |
| rs12414233 | 10:134,507,787 | A/C | intron variant | — |
| rs1049684899 | 10:134,511,362 | A/G | — | uncertain significance |
| rs140446601 | 10:134,540,339 | G/A | — | uncertain significance |
| rs34902202 | 10:134,540,388 | G/A | — | benign |
| rs35831787 | 10:134,546,346 | T/C | intron variant | — |
| rs1846433487 | 10:134,563,043 | T/C | — | uncertain significance |
| rs781476790 | 10:134,563,070 | A/G | — | uncertain significance |
| rs138441487 | 10:134,563,087 | A/G | — | uncertain significance |
| rs143990293 | 10:134,563,101 | G/A | — | benign |
| rs747603691 | 10:134,563,275 | G/A | — | uncertain significance |
| rs144665059 | 10:134,563,305 | G/C | — | uncertain significance |
| rs143801942 | 10:134,574,622 | C/T | intron variant | — |
| rs376790367 | 10:134,579,293 | A/G | — | uncertain significance |
| rs150382081 | 10:134,591,197 | C/T | — | uncertain significance |
| rs763770976 | 10:134,591,278 | G/C | — | uncertain significance |
| rs1239445084 | 10:134,594,371 | G/A | — | uncertain significance |
| rs1360382562 | 10:134,595,395 | G/A | — | uncertain significance |
| rs200256899 | 10:134,595,437 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.