MATN2
matrilin 2
Summary
This gene encodes a member of the von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains five von Willebrand factor A domains. The specific function of this gene has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants65 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs572843805 | 8:98,896,863 | G/T | — | — |
| rs747554325 | 8:98,900,345 | C/T | — | likely benign |
| rs35804177 | 8:98,900,369 | G/C | — | benign |
| rs11996075 | 8:98,910,287 | C/T | intron variant | — |
| rs536274639 | 8:98,915,235 | G/A | — | — |
| rs375231141 | 8:98,943,213 | G/A | — | uncertain significance |
| rs1178844115 | 8:98,943,229 | G/T | — | uncertain significance |
| rs765802052 | 8:98,943,283 | A/T | — | uncertain significance |
| rs2488220616 | 8:98,943,349 | C/T | — | uncertain significance |
| rs1349156473 | 8:98,943,403 | G/A | — | uncertain significance |
| rs377009254 | 8:98,943,420 | C/T | — | uncertain significance |
| rs2290470 | 8:98,943,446 | C/T | — | benign |
| rs201589846 | 8:98,943,499 | C/T | — | uncertain significance |
| rs765751317 | 8:98,943,502 | G/A | — | uncertain significance |
| rs1391103453 | 8:98,943,528 | G/A | — | uncertain significance |
| rs2488221552 | 8:98,943,531 | A/T | — | uncertain significance |
| rs199768448 | 8:98,954,005 | C/T | — | uncertain significance |
| rs765400588 | 8:98,954,008 | C/T | — | likely benign |
| rs2513845 | 8:98,954,012 | T/C | synonymous variant | — |
| rs767105770 | 8:98,954,038 | G/T | — | uncertain significance |
| rs1010621568 | 8:98,973,667 | C/G | — | uncertain significance |
| rs760575035 | 8:98,973,704 | G/A | — | uncertain significance |
| rs185171281 | 8:98,976,295 | A/G | intron variant | — |
| rs184482356 | 8:98,991,158 | T/C | — | uncertain significance |
| rs772890822 | 8:98,991,196 | T/A | — | uncertain significance |
| rs373486105 | 8:98,991,210 | T/G | — | uncertain significance |
| rs372424373 | 8:98,991,228 | C/T | — | uncertain significance |
| rs185364195 | 8:98,999,923 | C/A | intron variant | — |
| rs200521380 | 8:99,006,789 | T/C | — | uncertain significance |
| rs371094213 | 8:99,015,990 | C/A | — | uncertain significance |
| rs191567870 | 8:99,016,254 | C/T | intron variant | — |
| rs367846991 | 8:99,019,387 | C/T | — | uncertain significance |
| rs1004168478 | 8:99,019,389 | G/A | — | uncertain significance |
| rs763321296 | 8:99,019,440 | C/T | — | uncertain significance |
| rs779943667 | 8:99,019,767 | G/A | — | uncertain significance |
| rs373873113 | 8:99,019,805 | C/T | — | uncertain significance |
| rs2444896 | 8:99,022,009 | C/A | intron variant | — |
| rs182070549 | 8:99,023,400 | G/A | regulatory region variant | — |
| rs202116053 | 8:99,028,774 | A/C | — | uncertain significance |
| rs2487839374 | 8:99,028,851 | G/C | — | uncertain significance |
| rs369620547 | 8:99,028,863 | C/T | — | uncertain significance |
| rs1270204309 | 8:99,030,269 | G/A | — | uncertain significance |
| rs766096246 | 8:99,030,291 | C/T | — | uncertain significance |
| rs769746562 | 8:99,033,520 | G/A | — | uncertain significance |
| rs770685015 | 8:99,033,540 | G/A | — | uncertain significance |
| rs759262439 | 8:99,033,545 | A/T | — | uncertain significance |
| rs200356542 | 8:99,033,546 | C/T | — | uncertain significance |
| rs375640185 | 8:99,033,547 | G/A | — | uncertain significance |
| rs753482533 | 8:99,039,662 | T/C | — | uncertain significance |
| rs753747198 | 8:99,039,733 | G/A | — | uncertain significance |
| rs139198886 | 8:99,039,775 | G/A | — | uncertain significance |
| rs1002041327 | 8:99,039,884 | T/C | — | uncertain significance |
| rs1374353172 | 8:99,039,943 | C/A | — | uncertain significance |
| rs1486110256 | 8:99,039,992 | T/C | — | uncertain significance |
| rs780408664 | 8:99,042,698 | A/G | — | uncertain significance |
| rs200768007 | 8:99,042,806 | G/A | — | uncertain significance |
| rs375073171 | 8:99,044,485 | T/G | — | uncertain significance |
| rs1459378998 | 8:99,044,499 | G/C | — | uncertain significance |
| rs2487872476 | 8:99,044,521 | C/T | — | uncertain significance |
| rs772789526 | 8:99,045,340 | T/C | — | likely benign |
| rs145754758 | 8:99,045,365 | C/T | — | uncertain significance |
| rs199687930 | 8:99,045,366 | G/A | — | uncertain significance |
| rs777484871 | 8:99,045,805 | A/T | — | uncertain significance |
| rs770743517 | 8:99,045,812 | G/A | — | uncertain significance |
| rs151208737 | 8:99,047,894 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.