ZMAT3
zinc finger matrin-type 3
Summary
This gene encodes a protein containing three zinc finger domains and a nuclear localization signal. The mRNA and the protein of this gene are upregulated by wildtype p53 and overexpression of this gene inhibits tumor cell growth, suggesting that this gene may have a role in the p53-dependent growth regulatory pathway. Alternative splicing of this gene results in two transcript variants encoding two isoforms differing in only one amino acid. [provided by RefSeq, Jul 2008]
Known Variants26 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs7641761 | 3:178,740,422 | T/G | — | — |
| rs4607155 | 3:178,742,690 | T/A | — | — |
| rs2473582394 | 3:178,742,833 | T/C | — | likely benign |
| rs1718790852 | 3:178,742,842 | C/T | — | uncertain significance |
| rs532278040 | 3:178,742,843 | G/A | — | uncertain significance |
| rs143081076 | 3:178,742,860 | C/T | — | uncertain significance |
| rs759086085 | 3:178,742,990 | G/A | — | uncertain significance |
| rs2473590153 | 3:178,745,252 | A/T | — | uncertain significance |
| rs1292065783 | 3:178,745,265 | C/T | — | uncertain significance |
| rs1328916430 | 3:178,745,560 | G/A | — | uncertain significance |
| rs6794165 | 3:178,748,268 | G/C | — | — |
| rs372935625 | 3:178,748,672 | G/A | — | uncertain significance |
| rs374552851 | 3:178,748,753 | T/C | — | uncertain significance |
| rs9868334 | 3:178,750,604 | A/G | intron variant | — |
| rs9835765 | 3:178,751,193 | G/C | — | — |
| rs6443617 | 3:178,758,534 | A/G | intron variant | — |
| rs9855743 | 3:178,760,282 | G/T | intron variant | — |
| rs4637331 | 3:178,767,098 | T/C | intron variant | — |
| rs4955793 | 3:178,782,021 | C/G | — | — |
| rs911897604 | 3:178,785,312 | C/T | — | uncertain significance |
| rs1721478548 | 3:178,785,333 | G/T | — | uncertain significance |
| rs781031556 | 3:178,785,347 | T/G | — | uncertain significance |
| rs193920814 | 3:178,785,359 | C/T | — | uncertain significance |
| rs752233479 | 3:178,785,360 | A/T | — | likely benign |
| rs1416970807 | 3:178,785,429 | G/C | — | uncertain significance |
| rs761840300 | 3:178,785,519 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.