FAM74A4

Chr 9

family with sequence similarity 74 member A4

I cannot provide a clinical summary for FAM74A4 as no information about this gene's protein function, associated diseases, or inheritance patterns was provided in the data you referenced. To write an accurate clinical summary following your guidelines, I would need specific information about what the FAM74A4 protein does, what neurological conditions result from mutations in this gene, and the inheritance pattern of those conditions.

Clinical SummaryFAM74A4
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ClinVar Variants
20 unique Pathogenic / Likely Pathogenic of 21 total submissions
Some data sources returned errors (1)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

21 submitted variants in ClinVar

Classification Summary

Pathogenic19
Likely Pathogenic1
Benign1
19
Pathogenic
1
Likely Pathogenic
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
19
Likely Pathogenic
1
VUS
0
Likely Benign
0
Benign
1
Total21

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

FAM74A4 · 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 →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found