SLC3A1
Chr 2ADARsolute carrier family 3 member 1
Also known as: ATR1, CSNU1, D2H, NBAT, RBAT
This protein serves as a chaperone that facilitates the formation and trafficking of amino acid transporter complexes, particularly mediating renal reabsorption of cystine and dibasic amino acids in the proximal tubules. Mutations cause cystinuria, a disorder of amino acid transport that leads to kidney stone formation due to impaired cystine reabsorption. The condition shows both autosomal dominant and autosomal recessive inheritance patterns depending on the specific mutation.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
400 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 24 | 4 | 29 | 0 | 57 |
Likely Pathogenic | 18 | 22 | 2 | 0 | 42 |
VUS | 3 | 190 | 21 | 6 | 220 |
Likely Benign | 0 | 3 | 19 | 26 | 48 |
Benign | 0 | 0 | 2 | 2 | 4 |
Conflicting | — | 19 | |||
| Total | 45 | 219 | 73 | 34 | 390 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SLC3A1 · 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 →External Resources
Links to major genomics databases and tools