NTF3
neurotrophin 3
Summary
The protein encoded by this gene is a member of the neurotrophin family, that controls survival and differentiation of mammalian neurons. This protein is closely related to both nerve growth factor and brain-derived neurotrophic factor. It may be involved in the maintenance of the adult nervous system, and may affect development of neurons in the embryo when it is expressed in human placenta. NTF3-deficient mice generated by gene targeting display severe movement defects of the limbs. The mature peptide of this protein is identical in all mammals examined including human, pig, rat and mouse. [provided by RefSeq, Jul 2008]
Known Variants23 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs11063675 | 12:5,546,466 | C/T | intron variant | — |
| rs4930767 | 12:5,597,381 | T/C | regulatory region variant | — |
| rs373326887 | 12:5,603,442 | T/C | — | uncertain significance |
| rs1940977642 | 12:5,603,573 | A/G | — | uncertain significance |
| rs200340889 | 12:5,603,589 | G/A | — | uncertain significance |
| rs544995384 | 12:5,603,598 | A/T | — | uncertain significance |
| rs540320780 | 12:5,603,606 | G/A | — | uncertain significance |
| rs1805149 | 12:5,603,607 | G/A | — | benign |
| rs6332 | 12:5,603,632 | G/A | synonymous variant | — |
| rs562958461 | 12:5,603,642 | A/G | — | uncertain significance |
| rs35988749 | 12:5,603,650 | C/T | — | benign |
| rs1417380268 | 12:5,603,706 | G/A | — | uncertain significance |
| rs771891372 | 12:5,603,730 | T/C | — | uncertain significance |
| rs1022358940 | 12:5,603,738 | A/C | — | uncertain significance |
| rs746781555 | 12:5,603,786 | C/G | — | uncertain significance |
| rs1252054668 | 12:5,603,787 | G/A | — | uncertain significance |
| rs374882330 | 12:5,603,817 | G/T | — | uncertain significance |
| rs117869475 | 12:5,603,926 | C/T | — | benign |
| rs1368913522 | 12:5,603,969 | G/A | — | uncertain significance |
| rs1805150 | 12:5,603,989 | C/T | — | benign |
| rs2497489924 | 12:5,603,998 | G/A | — | likely benign |
| rs71532853 | 12:5,604,067 | A/G | — | benign |
| rs6489630 | 12:5,604,624 | T/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.