Home > Gene Browser > SLC38A5

SLC38A5

Synonyms
JM24, SN2, SNAT5, pp7194
External resources
Summary
The protein encoded by this gene is a system N sodium-coupled amino acid transporter. The encoded protein transports glutamine, asparagine, histidine, serine, alanine, and glycine across the cell membrane, but does not transport charged amino acids, imino acids, or N-alkylated amino acids. Alternative splicing results in multiple transcript variants, but the full-length nature of some of these variants has not been determined.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
6,979
Likely benign
3,626
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on SLC38A5 gene.

Phenotype class
Patients in 3billion (%)

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