GFRA1

Chr 10AR

GDNF family receptor alpha 1

ENSG00000151892UniProt: P56159OMIM: 601496

Coreceptor for GDNF, a neurotrophic factor that enhances survival and morphological differentiation of dopaminergic neurons and increases their high-affinity dopamine uptake (PubMed:10829012, PubMed:31535977). GDNF-binding leads to autophosphorylation and activation of the RET receptor (PubMed:31535977)

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Renal hypodysplasia/aplasia 4MIM #619887
AR

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
33
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.52
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.52LOEUF
pLI 0.117
Z-score 3.24
OE 0.27 (0.14–0.52)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.39Z-score
OE missense 0.77 (0.68–0.86)
214 obs / 279.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.27 (0.14–0.52)
0≤0.351.4
Missense OE?0.77 (0.68–0.86)
0≤0.61.4
Synonymous OE?1.11
0≤1.21.6
LoF obs/exp: 6 / 22.6Missense obs/exp: 214 / 279.5Syn Z: -0.97

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GFRA1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients