MARVELD3
MARVEL domain containing 3
Summary
Enables mitogen-activated protein kinase kinase kinase binding activity. Involved in bicellular tight junction assembly. Acts upstream of or within several processes, including negative regulation of JNK cascade; negative regulation of epithelial cell migration; and protein localization to cell junction. Located in bicellular tight junction and cytoplasmic vesicle. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants19 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs763736205 | 16:71,660,164 | G/A | — | uncertain significance |
| rs541584820 | 16:71,660,194 | G/T | — | uncertain significance |
| rs1406257478 | 16:71,660,200 | C/T | — | uncertain significance |
| rs1011064049 | 16:71,660,214 | G/A | — | uncertain significance |
| rs879727508 | 16:71,660,226 | G/T | — | uncertain significance |
| rs370821754 | 16:71,660,242 | G/A | — | uncertain significance |
| rs1200570786 | 16:71,660,253 | C/A | — | likely benign |
| rs1327185647 | 16:71,660,277 | G/T | — | uncertain significance |
| rs767196946 | 16:71,660,315 | A/C | — | uncertain significance |
| rs201434319 | 16:71,660,401 | G/T | — | uncertain significance |
| rs773797356 | 16:71,660,442 | C/T | — | uncertain significance |
| rs546760858 | 16:71,660,454 | G/A | — | uncertain significance |
| rs766231856 | 16:71,660,460 | C/A | — | uncertain significance |
| rs368013418 | 16:71,660,490 | C/T | — | uncertain significance |
| rs1391435188 | 16:71,660,580 | G/A | — | uncertain significance |
| rs6499527 | 16:71,666,524 | C/T | intron variant | — |
| rs745704806 | 16:71,674,378 | T/A | — | uncertain significance |
| rs201839766 | 16:71,674,847 | G/A | — | uncertain significance |
| rs12927320 | 16:71,675,230 | C/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.