ARMCX5-GPRASP2

Chr X

ARMCX5-GPRASP2 readthrough

Also known as: ARMCX5-GPRASP2-BHLHB9-LINC00630

This locus represents a complex readthrough transcription region on chromosome X that may produce proteins identical to GPRASP2 or BHLHB9, where GPRASP2 functions in G protein-coupled receptor trafficking and sorting. The clinical significance of variants in this readthrough transcript region remains unclear, as specific disease associations have not been established. Any potential inheritance would follow an X-linked pattern.

Summary from RefSeq
Research Assistant →
0
Active trials
0
Pubs (1 yr)
95
P/LP submissions
2%
P/LP missense
LOEUF
Mechanism
Clinical SummaryARMCX5-GPRASP2
📋
ClinVar Variants
93 unique Pathogenic / Likely Pathogenic· 302 VUS of 500 total submissions
Some data sources returned errors (1)

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

500 submitted variants in ClinVar

Classification Summary

Pathogenic91
Likely Pathogenic2
VUS302
Likely Benign42
Benign13
Conflicting4
91
Pathogenic
2
Likely Pathogenic
302
VUS
42
Likely Benign
13
Benign
4
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
1
90
0
91
Likely Pathogenic
0
1
1
0
2
VUS
1
295
6
0
302
Likely Benign
0
25
1
16
42
Benign
0
5
5
3
13
Conflicting
4
Total132710319454

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

View in ClinVar →

Protein Context — Lollipop Plot

ARMCX5-GPRASP2 · 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

No active trials found for this gene.

Search ClinicalTrials.gov →