NRTN
neurturin
Summary
This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein signals through the RET receptor tyrosine kinase and a GPI-linked coreceptor, and promotes survival of neuronal populations. A neurturin mutation has been described in a family with Hirschsprung Disease. [provided by RefSeq, Aug 2016]
Known Variants32 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs12979167 | 19:5,808,852 | C/T | intergenic variant | — |
| rs544548654 | 19:5,815,942 | G/A | — | — |
| rs185360714 | 19:5,816,149 | C/T | intergenic variant | — |
| rs564561153 | 19:5,817,464 | G/A | — | — |
| rs572221212 | 19:5,819,318 | G/A | — | — |
| rs7250982 | 19:5,823,244 | A/G | upstream gene variant | — |
| rs778194205 | 19:5,824,270 | C/T | — | uncertain significance |
| rs200288783 | 19:5,824,271 | G/A | — | uncertain significance |
| rs769422836 | 19:5,824,300 | C/T | — | uncertain significance |
| rs61731573 | 19:5,824,320 | C/T | — | benign |
| rs757355174 | 19:5,824,343 | A/C | — | uncertain significance |
| rs754065091 | 19:5,827,742 | C/T | — | likely benign |
| rs79744308 | 19:5,827,765 | A/G | — | benign |
| rs745382580 | 19:5,827,804 | G/A | — | uncertain significance |
| rs2512744526 | 19:5,827,814 | C/G | — | uncertain significance |
| rs200144113 | 19:5,827,826 | G/T | — | uncertain significance |
| rs752637086 | 19:5,827,880 | G/A | — | uncertain significance |
| rs2512744779 | 19:5,827,891 | C/T | — | uncertain significance |
| rs375707068 | 19:5,827,909 | G/A | — | uncertain significance |
| rs748453602 | 19:5,827,964 | T/C | — | uncertain significance |
| rs764016005 | 19:5,827,973 | G/C | — | uncertain significance |
| rs779807207 | 19:5,828,008 | G/C | — | uncertain significance |
| rs754536978 | 19:5,828,017 | C/G | — | uncertain significance |
| rs2512745437 | 19:5,828,050 | C/G | — | likely benign |
| rs1373965718 | 19:5,828,051 | T/G | — | uncertain significance |
| rs1345491153 | 19:5,828,060 | A/G | — | uncertain significance |
| rs7255720 | 19:5,828,064 | G/C | — | benign |
| rs1379706915 | 19:5,828,071 | G/C | — | uncertain significance |
| rs895058619 | 19:5,828,104 | G/A | — | uncertain significance |
| rs867644471 | 19:5,828,106 | C/G | — | uncertain significance |
| rs376877016 | 19:5,828,125 | G/A | — | uncertain significance |
| rs922519870 | 19:5,828,145 | G/A | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.