PHLDA3
pleckstrin homology like domain family A member 3
Summary
Enables phosphatidylinositol phosphate binding activity and phosphatidylinositol-3,4-bisphosphate binding activity. Involved in intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator; negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction; and positive regulation of apoptotic process. Located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants6 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2526950869 | 1:201,437,554 | C/T | — | uncertain significance |
| rs2526951055 | 1:201,437,602 | A/T | — | uncertain significance |
| rs371562100 | 1:201,437,624 | C/A | — | uncertain significance |
| rs192314256 | 1:201,437,730 | T/C | missense variant | — |
| rs778745850 | 1:201,437,750 | G/T | — | uncertain significance |
| rs905577582 | 1:201,437,901 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.