Varaico: Literature-Extracted Genetic Variants

Gene:SLC38A5
Variant:p.T48K

SLC38A5

59 papers

RefSeq Summary

The protein encoded by this gene is a system N sodium-coupled amino acid transporter. The encoded protein transports glutamine, asparagine, histidine, serine, alanine, and glycine across the cell memb...

Pfam Domains

Aa_transaa 46–460UCSCTransmembrane amino acid transporter protein

Gene Aliases

HGNC Name

solute carrier family 38 member 5

HGNC Alias Symbols

SN2; JM24; SNAT5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_033518.4
p.T48K
c.143C>A
Surrounding Variants
2 papers
NM_033518.4
p.S49L
c.146C>T
1 paper
NM_033518.4
p.F50L
c.150T>A
1 paper
NM_033518.4
p.S53T
c.157T>A
1 paper
NM_033518.4
p.F55Y
c.164T>A
1 paper
NM_033518.4
p.A60T
c.178G>A
1 paper
NM_033518.4
p.T76T
c.228G>A
1 paper
NM_033518.4
p.A83T
c.247G>A
1 paper
NM_033518.4
p.A83A
c.249C>A
1 paper
NM_033518.4
p.S92L
c.275C>T
1 paper
NM_033518.4
p.S92S
c.276G>A
1 paper
NM_033518.4
p.S93S
c.279C>A
1 paper
NM_033518.4
p.T101T
c.303C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."