PIH1D1
PIH1 domain containing 1
Summary
Enables several functions, including enzyme binding activity; histone binding activity; and phosphoprotein binding activity. Involved in several processes, including positive regulation of macromolecule metabolic process; positive regulation of signal transduction; and protein-containing complex assembly. Located in cytoplasm and nucleolus. Part of R2TP complex; RPAP3/R2TP/prefoldin-like complex; and pre-snoRNP complex. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants19 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs749794157 | 19:49,949,677 | A/C | — | uncertain significance |
| rs568738092 | 19:49,949,848 | T/G | — | uncertain significance |
| rs2079024227 | 19:49,949,853 | C/A | — | uncertain significance |
| rs2513914519 | 19:49,949,855 | G/T | — | uncertain significance |
| rs370272341 | 19:49,949,911 | C/T | — | uncertain significance |
| rs373879194 | 19:49,950,622 | G/A | — | uncertain significance |
| rs747558769 | 19:49,950,653 | G/A | — | uncertain significance |
| rs762580595 | 19:49,950,676 | T/C | — | uncertain significance |
| rs758486822 | 19:49,950,703 | C/T | — | uncertain significance |
| rs773505984 | 19:49,950,718 | C/T | — | uncertain significance |
| rs2079034195 | 19:49,951,122 | T/A | — | uncertain significance |
| rs1226083621 | 19:49,951,132 | T/A | — | uncertain significance |
| rs1398321408 | 19:49,951,295 | T/G | — | uncertain significance |
| rs142970239 | 19:49,951,552 | C/T | upstream gene variant | — |
| rs2513919674 | 19:49,952,746 | G/T | — | uncertain significance |
| rs968143894 | 19:49,952,773 | A/G | — | uncertain significance |
| rs142169635 | 19:49,952,819 | C/T | — | uncertain significance |
| rs2513919904 | 19:49,952,857 | T/C | — | uncertain significance |
| rs1351269111 | 19:49,954,063 | A/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.