TMEM271
Chr 4transmembrane protein 271
TMEM271 encodes a protein predicted to be located in cellular membranes. Mutations in this gene have been associated with neurodevelopmental disorders, though the specific clinical phenotypes and inheritance patterns are not well-characterized in the current literature. Additional clinical and molecular studies are needed to fully define the disease spectrum associated with TMEM271 variants.
Population Genetics & Constraint
Constraint data not available from gnomAD.
The highest-scoring mechanism for this gene is gain-of-function.
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
78 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 68 |
Likely Pathogenic | — | — | — | — | 1 |
VUS | — | — | — | — | 7 |
Likely Benign | — | — | — | — | 1 |
Benign | — | — | — | — | 0 |
Conflicting | — | 1 | |||
| Total | — | 78 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TMEM271 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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 →No open access results found
External Resources
Links to major genomics databases and tools