ARL17A

ADP ribosylation factor like GTPase 17A, the group of ARF GTPase family

Basic information

Region (hg38): 17:46499780-46579695

Previous symbols: [ "ARF1P2", "ARL17P1" ]

Links

ENSG00000185829NCBI:51326HGNC:24096Uniprot:Q8IVW1AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ARL17A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ARL17A gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
0
missense
1
clinvar
1
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
54
clinvar
15
clinvar
69
Total 0 0 55 15 0

Variants in ARL17A

This is a list of pathogenic ClinVar variants found in the ARL17A region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
17-46512741-T-C not specified Likely benign (Jan 17, 2024)3120595
17-46512762-G-A not specified Uncertain significance (Feb 28, 2024)3120613
17-46512809-C-G not specified Uncertain significance (Jan 23, 2023)2477060
17-46512848-C-T not specified Uncertain significance (Apr 22, 2024)3291595
17-46512917-C-T not specified Likely benign (Apr 13, 2023)2511250
17-46512920-G-A not specified Uncertain significance (Jun 17, 2024)3291593
17-46512972-T-C not specified Uncertain significance (Nov 10, 2022)2360007
17-46513017-C-T not specified Likely benign (Jul 25, 2023)2595820
17-46513035-C-A not specified Uncertain significance (Aug 08, 2022)2372484
17-46513160-C-G not specified Uncertain significance (May 25, 2022)2291123
17-46513308-T-G not specified Uncertain significance (Dec 09, 2023)3120614
17-46513311-G-A not specified Uncertain significance (Oct 05, 2021)2374942
17-46513422-C-T not specified Likely benign (Jun 22, 2021)2408162
17-46513452-C-T not specified Uncertain significance (Jun 30, 2022)2299427
17-46514691-G-A not specified Likely benign (Jun 30, 2022)2299426
17-46514949-C-G not specified Uncertain significance (May 26, 2024)3291596
17-46514949-C-T not specified Uncertain significance (May 17, 2023)2547950
17-46514987-C-T not specified Uncertain significance (Mar 02, 2023)2493319
17-46515039-G-A not specified Likely benign (Jan 17, 2024)3120593
17-46515041-C-A not specified Uncertain significance (Feb 10, 2022)2406699
17-46515066-G-A not specified Uncertain significance (May 12, 2024)3291592
17-46515178-C-G not specified Likely benign (Jul 21, 2021)2409994
17-46517231-G-C not specified Uncertain significance (Jul 21, 2021)2239166
17-46517428-G-C not specified Uncertain significance (Apr 18, 2023)2538484
17-46538392-C-T Uncertain significance (Jun 01, 2022)1703085

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function
FUNCTION: GTP-binding protein that functions as an allosteric activator of the cholera toxin catalytic subunit, an ADP- ribosyltransferase. Involved in protein trafficking; may modulate vesicle budding and uncoating within the Golgi apparatus (By similarity). {ECO:0000250}.;

Haploinsufficiency Scores

pHI
hipred
hipred_score
ghis
0.486

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.114

Gene ontology

Biological process
protein transport;vesicle-mediated transport
Cellular component
Golgi apparatus
Molecular function
GTP binding