MARCOL

Chr 5

MARCO like

NCBI Gene: 105378220ENSG00000248109UniProt: A0A1B0GUY1

Predicted to be located in endoplasmic reticulum lumen. [provided by Alliance of Genome Resources, Jul 2025]

6
ClinVar variants
5
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— MARCOL
📋
ClinVar Variants
5 Pathogenic / Likely Pathogenic of 6 total submissions

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

6 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic5
Likely Benign1
5
Pathogenic
1
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
5
0
5
Likely Pathogenic
0
0
0
0
0
VUS
0
0
0
0
0
Likely Benign
0
0
0
1
1
Benign
0
0
0
0
0
Total00516

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

View in ClinVar →

Protein Context — Lollipop Plot

MARCOL · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Gut microbial dysbiosis associated to diarrheic irritable bowel syndrome can be efficiently simulated in the Mucosal ARtificial COLon (M-ARCOL).
Uriot O et al.·Bioengineered
2025
A child is not an adult: development of a new in vitro model of the toddler colon.
Fournier E et al.·Appl Microbiol Biotechnol
2022Review
Pineal cysts in childhood.
Mandera M et al.·Childs Nerv Syst
2003
Prevention and management of painful neuroma.
Lewin-Kowalik J et al.·Neurol Med Chir (Tokyo)
2006Review
Microplastics: What happens in the human digestive tract? First evidences in adults using in vitro gut models.
Fournier E et al.·J Hazard Mater
2023Functional
Application of peripheral nerve conduits in clinical practice: A literature review.
Chrząszcz P et al.·Neurol Neurochir Pol
2018Review
Western diet-based NutriCol medium: A high-pectin, low-inulin culture medium promoted gut microbiota stability and diversity in PolyFermS and M-ARCOL continuous in vitro models.
Esmail GA et al.·Food Res Int
2025Functional
Evaluation of the concentration of selected elements in serum patients with intervertebral disc degeneration.
Staszkiewicz R et al.·J Trace Elem Med Biol
2023Cohort
Anterior lumbar interbody fusion (ALIF): biometrical results and own experiences.
Kapustka B et al.·Neurosurg Rev
2020
Changes in Elements and Relationships among Elements in Intervertebral Disc Degeneration.
Staszkiewicz R et al.·Int J Environ Res Public Health
2022
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

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