Varaico: Literature-Extracted Genetic Variants

Gene:SLC38A5
Variant:p.R398Q

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.R398Q
c.1193G>A
Surrounding Variants
1 paper
NM_033518.4
p.V394M
c.1180G>A
1 paper
NM_033518.4
p.W373*
c.1119G>A
1 paper
NM_033518.4
p.W373*
c.1118G>A
1 paper
NM_033518.4
p.T407A
c.1219A>G
1 paper
NM_033518.4
p.S411C
c.1231A>T
1 paper
NM_033518.4
p.P426P
c.1278C>G
1 paper
NM_033518.4
p.V445A
c.1334T>C
1 paper
NM_033518.4
p.M451T
c.1352T>C
1 paper
NM_033518.4
p.V453fs
c.1357_1358fs
2 papers
NM_033518.4
p.A345T
c.1033G>A
1 paper
NM_033518.4
p.C303S
c.908G>C
1 paper
NM_033518.4
p.C303S
c.907T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."