MAN2A1-DT
Chr 5MAN2A1 divergent transcript
Clinical Summary— MAN2A1-DT
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ClinVar Variants
13 Pathogenic / Likely Pathogenic· 11 VUS of 24 total submissions
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
24 submitted variants in ClinVar
Classification Summary
Pathogenic13
VUS11
13
Pathogenic
11
VUS
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 13 | 0 | 13 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 10 | 1 | 0 | 11 |
Likely Benign | 0 | 0 | 0 | 0 | 0 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 10 | 14 | 0 | 24 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →MAN2A1-DT · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
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
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
Alzheimer's disease pathogenetic progression is associated with changes in regulated retained introns and editing of circular RNAs
Arizaca Maquera KA et al.·Front Mol Neurosci
2023
Alteration of the metabolite interconversion enzyme in sperm and Sertoli cell of non-obstructive azoospermia: a microarray data and in-silico analysis
Hashemi Karoii D et al.·Sci Rep
2024
High-Risk HPV16 E6 Activates the cGMP/PKG Pathway Through Glycosyltransferase ST6GAL1 in Cervical Cancer Cells
Wang J et al.·Front Oncol
2021
Identification of lncRNAs Deregulated in Epithelial Ovarian Cancer Based on a Gene Expression Profiling Meta-Analysis
Salamini-Montemurri M et al.·Int J Mol Sci
2023
Tumor Androgen Receptor Protein Level Is Positively Associated with a Better Overall Survival in Melanoma Patients
Singh N et al.·Genes (Basel)
2023Cohort
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
No open access results found
Top 5 resultsSearch Europe PMC ↗
External Resources
Links to major genomics databases and tools