MANSC4
MANSC domain containing 4
Summary
Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be involved in epidermis development; epithelium development; and extracellular matrix organization. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants22 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2062052972 | 12:27,915,735 | C/T | — | uncertain significance |
| rs369103921 | 12:27,915,750 | C/G | — | uncertain significance |
| rs979159128 | 12:27,915,762 | C/A | — | uncertain significance |
| rs943061681 | 12:27,915,799 | C/T | — | uncertain significance |
| rs934253899 | 12:27,915,853 | T/C | — | uncertain significance |
| rs187627523 | 12:27,915,912 | T/C | — | uncertain significance |
| rs527342988 | 12:27,915,955 | G/T | — | uncertain significance |
| rs796592150 | 12:27,915,976 | C/T | — | uncertain significance |
| rs376492706 | 12:27,916,161 | G/A | — | uncertain significance |
| rs371286460 | 12:27,916,164 | G/A | — | uncertain significance |
| rs778736951 | 12:27,916,242 | A/G | — | uncertain significance |
| rs2539874794 | 12:27,916,258 | A/G | — | uncertain significance |
| rs367849450 | 12:27,916,275 | C/T | — | uncertain significance |
| rs1466416424 | 12:27,919,684 | A/G | — | uncertain significance |
| rs11049131 | 12:27,923,241 | G/A | intron variant | — |
| rs1356918768 | 12:27,924,015 | C/G | — | uncertain significance |
| rs1317155701 | 12:27,924,040 | T/C | — | uncertain significance |
| rs1304474569 | 12:27,924,148 | T/A | — | uncertain significance |
| rs11049136 | 12:27,926,784 | T/G | upstream gene variant | — |
| rs36138811 | 12:27,927,881 | T/C | upstream gene variant | — |
| rs11049140 | 12:27,929,501 | G/T | — | — |
| rs143384023 | 12:27,930,775 | T/C | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.