NOMO3
NODAL modulator 3
Summary
This gene encodes a protein originally thought to be related to the collagenase gene family. This gene is one of three highly similar genes in a duplicated region on the short arm of chromosome 16. These three genes encode closely related proteins that may have the same function. The protein encoded by one of these genes has been identified as part of a protein complex that participates in the Nodal signaling pathway during vertebrate development. Mutations in ABCC6, which is located nearby, rather than mutations in this gene are associated with pseudoxanthoma elasticum. [provided by RefSeq, Jul 2008]
Known Variants34 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs144648477 | 16:16,326,171 | G/C | — | — |
| rs926039815 | 16:16,326,528 | T/G | — | likely benign |
| rs1207364475 | 16:16,326,530 | G/C | — | uncertain significance |
| rs1197889120 | 16:16,326,533 | G/C | — | uncertain significance |
| rs936063009 | 16:16,326,538 | G/C | — | uncertain significance |
| rs891784012 | 16:16,326,570 | C/T | — | uncertain significance |
| rs1017079845 | 16:16,326,623 | G/A | — | uncertain significance |
| rs760610298 | 16:16,337,022 | G/A | — | likely benign |
| rs772355748 | 16:16,338,986 | G/A | — | uncertain significance |
| rs62032164 | 16:16,343,687 | T/C | — | — |
| rs998535260 | 16:16,344,873 | G/A | — | uncertain significance |
| rs781507447 | 16:16,349,620 | T/C | — | uncertain significance |
| rs374363601 | 16:16,349,662 | C/T | — | uncertain significance |
| rs973401954 | 16:16,349,865 | T/A | — | uncertain significance |
| rs769394205 | 16:16,349,930 | G/C | — | uncertain significance |
| rs201911586 | 16:16,355,435 | C/A | — | uncertain significance |
| rs200524541 | 16:16,355,471 | G/A | — | uncertain significance |
| rs2506147658 | 16:16,355,486 | C/T | — | uncertain significance |
| rs746450329 | 16:16,356,976 | C/T | — | uncertain significance |
| rs2506148647 | 16:16,357,013 | T/C | — | uncertain significance |
| rs375238777 | 16:16,357,386 | G/C | — | uncertain significance |
| rs368579985 | 16:16,357,412 | G/A | — | uncertain significance |
| rs752185268 | 16:16,357,426 | C/T | — | uncertain significance |
| rs779310945 | 16:16,357,493 | A/G | — | uncertain significance |
| rs551208423 | 16:16,358,812 | G/A | — | — |
| rs775246794 | 16:16,358,993 | C/T | — | uncertain significance |
| rs2506150373 | 16:16,359,002 | T/C | — | uncertain significance |
| rs1208366806 | 16:16,360,967 | C/T | — | uncertain significance |
| rs202070282 | 16:16,367,613 | G/T | stop gained | — |
| rs1181013370 | 16:16,367,707 | A/G | — | uncertain significance |
| rs2506155376 | 16:16,367,757 | T/C | — | uncertain significance |
| rs765090065 | 16:16,367,870 | T/G | — | uncertain significance |
| rs2049677320 | 16:16,367,905 | C/T | — | uncertain significance |
| rs1394871997 | 16:16,367,924 | T/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.