GFRA1
GDNF family receptor alpha 1
Summary
This gene encodes a member of the glial cell line-derived neurotrophic factor receptor (GDNFR) family of proteins. The encoded preproprotein is proteolytically processed to generate the mature receptor. Glial cell line-derived neurotrophic factor (GDNF) and neurturin (NTN) are two structurally related, potent neurotrophic factors that play key roles in the control of neuron survival and differentiation. This receptor is a glycosylphosphatidylinositol (GPI)-linked cell surface receptor for both GDNF and NTN, and mediates activation of the RET tyrosine kinase receptor. This gene is a candidate gene for Hirschsprung disease. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
Known Variants54 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs374020279 | 10:117,823,915 | T/C | — | likely benign |
| rs75841238 | 10:117,823,963 | C/G | — | likely benign |
| rs2302105 | 10:117,824,888 | C/A | — | — |
| rs371052783 | 10:117,825,076 | A/C | — | likely benign |
| rs76253448 | 10:117,825,106 | T/C | — | likely benign |
| rs769034000 | 10:117,825,118 | T/G | — | uncertain significance |
| rs143285805 | 10:117,849,279 | A/T | — | uncertain significance |
| rs188589811 | 10:117,849,304 | C/G | — | uncertain significance |
| rs2072276 | 10:117,849,353 | T/C | — | benign |
| rs2495412619 | 10:117,849,412 | C/T | — | uncertain significance |
| rs199939826 | 10:117,853,226 | G/A | — | benign |
| rs372028199 | 10:117,856,157 | G/A | — | likely benign |
| rs147311612 | 10:117,856,185 | G/A | — | likely benign |
| rs779249825 | 10:117,856,198 | G/T | — | uncertain significance |
| rs772569674 | 10:117,856,199 | C/T | — | uncertain significance |
| rs369361297 | 10:117,856,215 | A/G | — | likely benign |
| rs138886956 | 10:117,856,242 | C/A | — | uncertain significance |
| rs754562462 | 10:117,856,264 | G/A | — | uncertain significance |
| rs863223332 | 10:117,856,267 | A/G | — | uncertain significance |
| rs1184814248 | 10:117,856,270 | C/T | — | uncertain significance |
| rs376239327 | 10:117,884,727 | C/A | — | likely benign |
| rs138633134 | 10:117,884,747 | G/A | — | likely benign |
| rs148421299 | 10:117,884,748 | T/C | — | uncertain significance |
| rs76248338 | 10:117,884,755 | G/A | — | likely benign |
| rs1333543663 | 10:117,884,777 | T/C | — | uncertain significance |
| rs191814086 | 10:117,884,826 | G/A | — | likely pathogenic |
| rs1005537154 | 10:117,884,831 | C/T | — | uncertain significance |
| rs200334587 | 10:117,884,852 | C/T | — | likely benign |
| rs2495758946 | 10:117,884,869 | C/T | — | uncertain significance |
| rs746138428 | 10:117,884,874 | C/A | — | pathogenic |
| rs927034294 | 10:117,884,892 | G/A | — | uncertain significance |
| rs761554769 | 10:117,884,934 | G/A | — | uncertain significance |
| rs2245020 | 10:117,884,950 | G/A | — | benign |
| rs139984974 | 10:117,884,951 | T/C | — | uncertain significance |
| rs764261686 | 10:117,885,052 | T/C | — | likely benign |
| rs11197571 | 10:117,942,634 | A/G | intron variant | — |
| rs146207745 | 10:117,955,500 | G/A | intron variant | — |
| rs10885877 | 10:117,966,090 | C/A | — | — |
| rs2694765 | 10:117,967,763 | T/C | intron variant | — |
| rs369534363 | 10:117,971,143 | C/G | — | uncertain significance |
| rs12413355 | 10:117,973,597 | A/G | intron variant | — |
| rs1079261 | 10:117,986,910 | G/A | intron variant | — |
| rs4269847 | 10:117,991,102 | A/G | intron variant | — |
| rs150741467 | 10:118,007,752 | G/A | intron variant | — |
| rs75503766 | 10:118,023,295 | G/A | intron variant | — |
| rs2493861602 | 10:118,029,071 | T/C | — | uncertain significance |
| rs2493875731 | 10:118,030,343 | T/C | — | uncertain significance |
| rs34371262 | 10:118,030,386 | C/T | — | benign |
| rs1197225260 | 10:118,030,411 | T/C | — | uncertain significance |
| rs8192662 | 10:118,030,415 | A/T | — | benign |
| rs1318347607 | 10:118,030,468 | T/C | — | uncertain significance |
| rs76531145 | 10:118,030,627 | T/G | — | benign |
| rs372156491 | 10:118,030,633 | G/T | — | likely benign |
| rs1589930581 | 10:118,031,541 | T/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.