PSD4
pleckstrin and Sec7 domain containing 4
Summary
Predicted to enable guanyl-nucleotide exchange factor activity and phospholipid binding activity. Predicted to be involved in regulation of ARF protein signal transduction. Located in ruffle membrane. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants62 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs150242804 | 2:113,940,062 | A/G | — | uncertain significance |
| rs144246302 | 2:113,940,065 | C/A | — | uncertain significance |
| rs771549348 | 2:113,940,103 | A/G | — | uncertain significance |
| rs567818540 | 2:113,940,215 | A/T | — | uncertain significance |
| rs947631957 | 2:113,940,236 | C/A | — | uncertain significance |
| rs147954742 | 2:113,940,253 | C/T | — | uncertain significance |
| rs535109446 | 2:113,940,448 | C/T | — | uncertain significance |
| rs760622330 | 2:113,940,475 | C/T | — | uncertain significance |
| rs140338710 | 2:113,940,476 | G/A | — | likely benign |
| rs771922517 | 2:113,940,547 | G/A | — | uncertain significance |
| rs1299842037 | 2:113,940,559 | A/G | — | uncertain significance |
| rs769948278 | 2:113,940,563 | C/T | — | uncertain significance |
| rs1051209650 | 2:113,940,568 | G/A | — | uncertain significance |
| rs368039539 | 2:113,940,602 | C/T | — | uncertain significance |
| rs1381726917 | 2:113,940,641 | C/A | — | uncertain significance |
| rs758123424 | 2:113,940,647 | C/T | — | uncertain significance |
| rs777967009 | 2:113,940,688 | G/C | — | uncertain significance |
| rs977994016 | 2:113,940,736 | C/T | — | uncertain significance |
| rs2466742838 | 2:113,940,790 | G/A | — | uncertain significance |
| rs746131309 | 2:113,940,841 | G/A | — | uncertain significance |
| rs141074516 | 2:113,940,887 | C/T | — | uncertain significance |
| rs1441493291 | 2:113,940,893 | T/C | — | uncertain significance |
| rs1573355861 | 2:113,940,907 | C/T | — | uncertain significance |
| rs777582117 | 2:113,942,960 | G/A | — | uncertain significance |
| rs201640002 | 2:113,942,978 | C/T | — | uncertain significance |
| rs546428381 | 2:113,943,522 | C/A | — | uncertain significance |
| rs267598843 | 2:113,943,573 | G/A | — | uncertain significance |
| rs771411646 | 2:113,943,580 | G/A | — | uncertain significance |
| rs761343089 | 2:113,943,595 | C/T | — | uncertain significance |
| rs774075743 | 2:113,943,613 | C/T | — | uncertain significance |
| rs139453780 | 2:113,943,672 | T/C | — | likely benign |
| rs865891218 | 2:113,943,831 | C/A | — | uncertain significance |
| rs2466758652 | 2:113,949,967 | A/G | — | uncertain significance |
| rs766471985 | 2:113,950,040 | G/A | — | uncertain significance |
| rs147848573 | 2:113,950,129 | T/C | — | uncertain significance |
| rs567086694 | 2:113,950,837 | G/A | — | uncertain significance |
| rs142138455 | 2:113,953,133 | G/C | — | — |
| rs746763210 | 2:113,953,322 | C/T | — | uncertain significance |
| rs143098414 | 2:113,953,337 | G/C | — | uncertain significance |
| rs4849169 | 2:113,953,657 | A/C | intron variant | — |
| rs751252559 | 2:113,953,749 | G/A | — | uncertain significance |
| rs376631150 | 2:113,953,762 | C/T | — | likely benign |
| rs2466769446 | 2:113,955,197 | C/T | — | uncertain significance |
| rs760865078 | 2:113,955,384 | G/A | — | uncertain significance |
| rs766895686 | 2:113,955,441 | G/A | — | uncertain significance |
| rs755662619 | 2:113,955,457 | C/T | — | uncertain significance |
| rs1274864637 | 2:113,956,406 | C/A | — | uncertain significance |
| rs1688688118 | 2:113,956,438 | G/T | — | uncertain significance |
| rs540074729 | 2:113,956,663 | G/C | — | uncertain significance |
| rs1344814726 | 2:113,956,736 | C/T | — | uncertain significance |
| rs1020499962 | 2:113,956,756 | C/G | — | uncertain significance |
| rs767469013 | 2:113,956,759 | G/A | — | uncertain significance |
| rs1350019753 | 2:113,956,769 | A/C | — | uncertain significance |
| rs2015769 | 2:113,957,637 | A/T | — | — |
| rs777318531 | 2:113,958,778 | T/G | — | uncertain significance |
| rs201131983 | 2:113,958,781 | A/G | — | uncertain significance |
| rs200368046 | 2:113,958,844 | G/C | — | uncertain significance |
| rs138950846 | 2:113,958,897 | G/A | — | uncertain significance |
| rs567395358 | 2:113,958,902 | G/C | — | uncertain significance |
| rs1160238188 | 2:113,958,979 | G/A | — | uncertain significance |
| rs7563124 | 2:113,965,198 | T/A | downstream gene variant | — |
| rs7560180 | 2:113,965,200 | A/C | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.