SLC9D1
Chr 13solute carrier family 9 member D1
Also known as: C13orf11, TMCO3
This gene encodes a sodium/hydrogen or potassium/hydrogen antiporter that facilitates membrane translocation and activation of AKT1 upon IGF1-dependent phosphorylation. Mutations cause cornea guttata with anterior polar cataract, a rare inherited vision defect affecting the cornea and lens. The inheritance pattern for this condition has not been established.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/SLC9D1?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
167 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 | — | — | — | — | 114 |
Likely Pathogenic | — | — | — | — | 3 |
VUS | — | — | — | — | 19 |
Likely Benign | — | — | — | — | 4 |
Benign | — | — | — | — | 0 |
| Total | — | 140 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SLC9D1 · 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 →No publications found for SLC9D1
External Resources
Links to major genomics databases and tools