FAM74A6

Chr 9

family with sequence similarity 74 member A6

I cannot provide a clinical summary for FAM74A6 as no information about this gene's protein function, associated diseases, or inheritance patterns was provided in the data below the instructions.

DNmechanism
Clinical SummaryFAM74A6
📋
ClinVar Variants
20 unique Pathogenic / Likely Pathogenic of 20 total submissions

Population Genetics & Constraint

Constraint data not available from gnomAD.

DN
0.6938th %ile
GOF
0.4776th %ile
LOF
0.55top 25%

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

20 submitted variants in ClinVar

Classification Summary

Pathogenic19
Likely Pathogenic1
19
Pathogenic
1
Likely Pathogenic

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
0
Total20

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

FAM74A6 · 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 3 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found