HAPLN1
hyaluronan and proteoglycan link protein 1
Summary
Predicted to enable hyaluronic acid binding activity. Predicted to be an extracellular matrix structural constituent conferring compression resistance. Predicted to be involved in central nervous system development and skeletal system development. Located in collagen-containing extracellular matrix. [provided by Alliance of Genome Resources, Apr 2025]
Known Variants18 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs770850928 | 5:82,937,382 | C/G | — | uncertain significance |
| rs765478241 | 5:82,937,398 | T/C | — | uncertain significance |
| rs200637837 | 5:82,937,561 | A/C | — | uncertain significance |
| rs539983751 | 5:82,937,577 | G/A | — | uncertain significance |
| rs148966419 | 5:82,940,369 | G/A | — | likely benign |
| rs766194311 | 5:82,940,385 | A/G | — | uncertain significance |
| rs374286486 | 5:82,940,451 | C/A | — | uncertain significance |
| rs374831207 | 5:82,948,293 | C/T | — | uncertain significance |
| rs139457628 | 5:82,948,425 | C/T | — | uncertain significance |
| rs2112567389 | 5:82,948,574 | A/G | — | uncertain significance |
| rs75460921 | 5:82,956,602 | G/A | intron variant | — |
| rs3846635 | 5:82,960,734 | A/G | intron variant | — |
| rs179851 | 5:82,960,870 | T/A | — | — |
| rs139340085 | 5:82,969,258 | C/T | — | uncertain significance |
| rs1209193392 | 5:82,969,273 | G/T | — | uncertain significance |
| rs1424989416 | 5:82,969,281 | T/C | — | uncertain significance |
| rs336959 | 5:82,972,014 | T/C | — | — |
| rs4466137 | 5:82,985,739 | T/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.