ARL17A

Chr 17

ARF like GTPase 17A

Also known as: ARF1P2, ARL17P1

Predicted to enable GTP binding activity. Predicted to be involved in intracellular protein transport and vesicle-mediated transport. Predicted to be located in Golgi apparatus. Predicted to be active in cytoplasm and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

0
Active trials
12
Pathogenic / LP
188
ClinVar variants
5
Pubs (1 yr)
Missense Z
LOEUF
Clinical SummaryARL17A
📋
ClinVar Variants
12 Pathogenic / Likely Pathogenic· 131 VUS of 188 total submissions

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

188 submitted variants in ClinVar

Classification Summary

Pathogenic11
Likely Pathogenic1
VUS131
Likely Benign29
Benign16
11
Pathogenic
1
Likely Pathogenic
131
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
0
129
2
0
131
Likely Benign
0
19
10
0
29
Benign
0
0
16
0
16
Total0148400188

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.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence