Home > Gene Browser > SLC38A1

SLC38A1

Synonyms
ATA1, NAT2, SAT1, SNAT1
External resources
Summary
Amino acid transporters play essential roles in the uptake of nutrients, production of energy, chemical metabolism, detoxification, and neurotransmitter cycling. SLC38A1 is an important transporter of glutamine, an intermediate in the detoxification of ammonia and the production of urea. Glutamine serves as a precursor for the synaptic transmitter, glutamate (Gu et al., 2001 [PubMed 11325958]).

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
3,314
Likely benign
1,029
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on SLC38A1 gene.

Phenotype class
Patients in 3billion (%)

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