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SLC38A4

Synonyms
ATA3, NAT3, PAAT, SNAT4
External resources
Summary
SLC38A4 is found predominantly in liver and transports both cationic and neutral amino acids. The transport of cationic amino acids by SLC38A4 is Na(+) and pH independent, while the transport of neutral amino acids is Na(+) and pH dependent (Hatanaka et al., 2001 [PubMed 11342143]).

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
2,965
Likely benign
1,870
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on SLC38A4 gene.

Phenotype class
Patients in 3billion (%)

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