SLC7A13

Chr 8

solute carrier family 7 member 13

Also known as: AGT-1, AGT1, XAT2

NCBI Gene: 157724ENSG00000164893UniProt: Q8TCU3OMIM: 617256

Predicted to enable L-amino acid transmembrane transporter activity. Predicted to be involved in amino acid transmembrane transport. Predicted to be located in plasma membrane. Predicted to be active in apical plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.73
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.73LOEUF
pLI 0.000
Z-score -0.69
OE 1.19 (0.82–1.73)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.90Z-score
OE missense 1.16 (1.05–1.28)
282 obs / 242.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.19 (0.82–1.73)
0≤0.351.4
Missense OE?1.16 (1.05–1.28)
0≤0.61.4
Synonymous OE?1.09
0≤1.21.6
LoF obs/exp: 18 / 15.1Missense obs/exp: 282 / 242.6Syn Z: -0.71

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SLC7A13 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients