ARL17A

Chr 17

ARF like GTPase 17A

Also known as: ARF1P2, ARL17P1

NCBI Gene: 51326ENSG00000185829UniProt: Q8IVW1

ARL17A encodes a small GTP-binding protein that cycles between GDP-bound and GTP-bound forms and is predicted to function in intracellular protein transport and vesicle trafficking at the Golgi apparatus. No established disease associations have been reported for this gene based on the available information. The inheritance pattern cannot be determined from the current data.

ResearchSummary from RefSeq, UniProt
Clinical Summary— ARL17A
📋
ClinVar Variants
12 unique Pathogenic / Likely Pathogenic· 132 VUS of 196 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

196 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic11
Likely Pathogenic1
VUS132
Likely Benign29
Benign16
11
Pathogenic
1
Likely Pathogenic
132
VUS
29
Likely Benign
16
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
11
0
11
Likely Pathogenic
0
0
1
0
1
VUS
1
130
1
0
132
Likely Benign
0
19
10
0
29
Benign
0
0
16
0
16
Total1149390189

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

ARL17A · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Whole genome sequencing identifies candidate genes for familial essential tremor and reveals biological pathways implicated in essential tremor aetiology.
Clark LN et al.·EBioMedicine
2022
Leveraging Alzheimer's Disease Omics to Identify Pleiotropic Genes Contributing to Neurodegeneration in Primary Open-Angle Glaucoma.
Tolosa-Tort P et al.·Mol Neurobiol
2025
Detection of novel fusion-transcripts by RNA-Seq in T-cell lymphoblastic lymphoma.
López-Nieva P et al.·Sci Rep
2019
The KANSL1-ARL17A fusion gene generates oncogenic chKANSARL and F-circKA RNAs that synergistically drive lung cancer progression via a novel F-circKA/miR-6860/chKANSARL axis.
Guan X et al.·J Biol Chem
2026
Screening non-MAPT genes of the Chr17q21 H1 haplotype in Parkinson's disease.
Soto-Beasley AI et al.·Parkinsonism Relat Disord
2020
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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