Varaico: Literature-Extracted Genetic Variants

Gene:SLC17A5

SLC17A5

374 papers

RefSeq Summary

This gene encodes a membrane transporter that exports free sialic acids that have been cleaved off of cell surface lipids and proteins from lysosomes. Mutations in this gene cause sialic acid storage ...

Pfam Domains

MFS_1aa 46–441UCSCMajor Facilitator Superfamily

Gene Aliases

HGNC Name

solute carrier family 17 member 5

HGNC Previous Symbol

SIASD

Papers
RefSeq ID
Protein change
DNA change
1–12 of 295 variants
67 papers
NM_012434.5
p.R39C
c.115C>T
30 papers
NM_012434.5
p.K136E
c.406A>G
14 papers
NM_012434.5
p.T178delFs
c.533delG
14 papers
NM_012434.5
p.Y306*
c.918T>G
13 papers
NM_012434.5
p.H183R
c.548A>G
12 papers
NM_012434.5
p.Y306*
c.918T>A
11 papers
NM_012434.5
p.R39H
c.116G>A
11 papers
NM_012434.5
p.P334R
c.1001C>G
10 papers
NM_012434.5
p.G328E
c.983G>A
10 papers
NM_012434.5
p.G409E
c.1226G>A
9 papers
NM_012434.5
p.G371V
c.1112G>T
8 papers
NM_012434.5
p.T97T
c.291G>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."