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SLC3A2

Synonyms
4F2, 4F2HC, 4T2HC, CD98, CD98HC, MDU1, NACAE
External resources
Summary
This gene is a member of the solute carrier family and encodes a cell surface, transmembrane protein. The protein exists as the heavy chain of a heterodimer, covalently bound through di-sulfide bonds to one of several possible light chains. The encoded transporter plays a role in regulation of intracellular calcium levels and transports L-type amino acids. Alternatively spliced transcript variants, encoding different isoforms, have been characterized.

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
3,287
Likely benign
367
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on SLC3A2 gene.

Phenotype class
Patients in 3billion (%)

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