Varaico: Literature-Extracted Genetic Variants

SLC38A4

55 papers

RefSeq 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 neutr...

Pfam Domains

Aa_transaa 73–255UCSCTransmembrane amino acid transporter protein

Aa_transaa 304–535UCSCTransmembrane amino acid transporter protein

Gene Aliases

HGNC Name

solute carrier family 38 member 4

HGNC Alias Symbols

PAAT; NAT3; ATA3; SNAT4

Papers

RefSeq ID

Protein change

DNA change

1–12 of 61 variants

4 papers

NM_018018.5

p.G29R

c.85G>C

4 papers

NM_018018.5

p.G29R

c.85G>A

2 papers

NM_018018.5

p.R292L

c.875G>T

2 papers

NM_018018.5

p.T366M

c.1097C>T

2 papers

NM_018018.5

p.R435H

c.1304G>A

1 paper

NM_018018.5

p.M4I

c.12G>T

1 paper

NM_018018.5

p.M4I

c.12G>C

1 paper

NM_018018.5

p.M4I

c.12G>A

1 paper

NM_018018.5

p.E12K

c.34G>A

1 paper

NM_018018.5

p.D14H

c.40G>C

1 paper

NM_018018.5

p.E16*

c.46G>T

1 paper

NM_018018.5

p.A23D

c.68C>A