Varaico: Literature-Extracted Genetic Variants

Gene:SLC38A5
Variant:p.L168F

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.L168F
c.504G>T
Surrounding Variants
1 paper
NM_033518.4
p.L168F
c.504G>C
1 paper
NM_033518.4
p.I175I
c.525C>A
1 paper
NM_033518.4
p.L191L
c.573G>A
1 paper
NM_033518.4
p.S201F
c.602C>T
1 paper
NM_033518.4
p.A222G
c.665C>G
1 paper
NM_033518.4
p.L243H
c.728T>A
1 paper
NM_033518.4
p.R284W
c.850C>T
1 paper
NM_033518.4
p.K287E
c.859A>G
1 paper
NM_033518.4
p.K287Q
c.859A>C
1 paper
NM_033518.4
p.K287R
c.860A>G
1 paper
NM_033518.4
p.R288C
c.862C>T
1 paper
NM_033518.4
p.M301fs
c.901_902fs
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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."