SLC38A3
solute carrier family 38 member 3
Summary
Enables L-amino acid transmembrane transporter activity. Involved in carboxylic acid transport. Located in plasma membrane. Implicated in developmental and epileptic encephalopathy 102. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants36 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs184962666 | 3:50,241,935 | G/A | upstream gene variant | — |
| rs532898913 | 3:50,247,081 | C/T | — | — |
| rs570772944 | 3:50,251,639 | G/A | — | uncertain significance |
| rs745824606 | 3:50,251,850 | C/T | — | uncertain significance |
| rs1437118005 | 3:50,252,088 | G/T | — | pathogenic |
| rs1328069953 | 3:50,252,110 | T/C | — | uncertain significance |
| rs2546169595 | 3:50,252,976 | G/A | — | uncertain significance |
| rs780477983 | 3:50,253,006 | G/A | — | uncertain significance |
| rs2546169634 | 3:50,253,012 | T/C | — | uncertain significance |
| rs755467464 | 3:50,253,240 | G/A | — | uncertain significance |
| rs757683803 | 3:50,254,867 | G/A | — | uncertain significance |
| rs780109786 | 3:50,254,901 | T/C | — | uncertain significance |
| rs587742060 | 3:50,255,129 | G/A | — | uncertain significance |
| rs587625542 | 3:50,255,157 | A/G | — | uncertain significance |
| rs752651133 | 3:50,255,192 | G/C | — | uncertain significance |
| rs747480271 | 3:50,255,219 | G/A | — | uncertain significance |
| rs773629318 | 3:50,255,259 | C/T | — | uncertain significance |
| rs2109157808 | 3:50,255,273 | G/T | — | pathogenic |
| rs372237978 | 3:50,255,394 | C/T | — | uncertain significance |
| rs35926495 | 3:50,255,663 | C/T | intron variant | — |
| rs770861431 | 3:50,255,757 | A/C | — | uncertain significance |
| rs1368316485 | 3:50,256,037 | C/A | — | pathogenic |
| rs2470655299 | 3:50,256,067 | A/C | — | uncertain significance |
| rs2470655313 | 3:50,256,074 | T/A | — | uncertain significance |
| rs1352789248 | 3:50,256,096 | C/A | — | uncertain significance |
| rs1283005538 | 3:50,256,099 | G/A | — | uncertain significance |
| rs369474593 | 3:50,256,105 | G/T | — | uncertain significance |
| rs1269139181 | 3:50,256,108 | C/G | — | uncertain significance |
| rs2109158872 | 3:50,256,111 | A/C | — | pathogenic |
| rs2470656036 | 3:50,256,284 | T/G | — | uncertain significance |
| rs2109159077 | 3:50,256,286 | G/A | — | likely pathogenic |
| rs587595868 | 3:50,257,535 | C/A | — | uncertain significance |
| rs1448219560 | 3:50,257,562 | A/G | — | uncertain significance |
| rs754550498 | 3:50,257,566 | T/C | — | uncertain significance |
| rs1047964945 | 3:50,257,590 | G/A | — | likely benign |
| rs375553022 | 3:50,257,602 | A/G | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.