VEPH1
ventricular zone expressed PH domain containing 1
Summary
Predicted to enable phosphatidylinositol-5-phosphate binding activity. Involved in negative regulation of SMAD protein signal transduction and negative regulation of transforming growth factor beta receptor signaling pathway. Predicted to be located in endomembrane system. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2025]
Known Variants39 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1452010959 | 3:156,983,320 | T/G | — | uncertain significance |
| rs748206479 | 3:156,983,364 | C/T | — | uncertain significance |
| rs2473442359 | 3:156,983,381 | G/C | — | uncertain significance |
| rs376189512 | 3:156,983,395 | T/C | — | uncertain significance |
| rs111927722 | 3:156,983,431 | G/A | — | uncertain significance |
| rs1016179157 | 3:157,004,365 | G/T | — | uncertain significance |
| rs767354091 | 3:157,004,415 | C/T | — | uncertain significance |
| rs1357288 | 3:157,006,796 | T/G | — | — |
| rs58139327 | 3:157,026,814 | A/G | intron variant | — |
| rs759097393 | 3:157,034,865 | A/G | — | uncertain significance |
| rs145883418 | 3:157,034,921 | C/T | — | uncertain significance |
| rs973956823 | 3:157,081,203 | G/A | — | uncertain significance |
| rs758321163 | 3:157,081,267 | T/C | — | likely benign |
| rs148731684 | 3:157,081,278 | G/A | — | uncertain significance |
| rs145016554 | 3:157,081,411 | G/A | — | uncertain significance |
| rs150966508 | 3:157,081,495 | C/T | — | uncertain significance |
| rs201025388 | 3:157,081,510 | C/T | — | uncertain significance |
| rs772512643 | 3:157,082,162 | G/C | — | uncertain significance |
| rs2474186388 | 3:157,082,212 | T/A | — | uncertain significance |
| rs138456629 | 3:157,082,245 | A/G | — | likely benign |
| rs766106921 | 3:157,099,012 | T/C | — | uncertain significance |
| rs35554741 | 3:157,099,025 | G/C | — | uncertain significance |
| rs60515336 | 3:157,103,679 | C/T | downstream gene variant | — |
| rs529200276 | 3:157,112,255 | G/C | — | — |
| rs142231099 | 3:157,131,819 | T/A | — | uncertain significance |
| rs774479665 | 3:157,131,835 | A/T | — | uncertain significance |
| rs952882315 | 3:157,131,868 | C/A | — | uncertain significance |
| rs35911360 | 3:157,146,113 | C/T | — | uncertain significance |
| rs2120243 | 3:157,147,568 | A/T | — | — |
| rs2473569378 | 3:157,178,116 | A/G | — | uncertain significance |
| rs370265927 | 3:157,188,004 | A/G | — | — |
| rs769862950 | 3:157,188,132 | C/T | — | uncertain significance |
| rs139169472 | 3:157,188,170 | G/A | — | uncertain significance |
| rs532806977 | 3:157,188,178 | G/C | — | uncertain significance |
| rs1050578277 | 3:157,188,242 | G/A | — | uncertain significance |
| rs757053819 | 3:157,213,002 | G/A | — | uncertain significance |
| rs1487669073 | 3:157,213,014 | A/T | — | uncertain significance |
| rs1311991642 | 3:157,213,015 | T/C | — | uncertain significance |
| rs373381778 | 3:157,213,134 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.