Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A3

SLC19A3

230 papers

RefSeq Summary

This gene encodes a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity. Mutations in this gene cause biotin-responsive basal ganglia disease (BBGD); a reces...

Pfam Domains

Folate_carrieraa 10–441UCSCReduced folate carrier

Gene Aliases

HGNC Name

solute carrier family 19 member 3

HGNC Alias Symbols

THTR2; thTr-2; hTHTR2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 368 variants
51 papers
NM_025243.4
p.T422A
c.1264A>G
36 papers
NM_025243.4
p.G23V
c.68G>T
30 papers
NM_025243.4
p.E320Q
c.958G>C
25 papers
NM_025243.4
p.F25insFs
c.74dupT
23 papers
NM_025243.4
p.K44E
c.130A>G
23 papers
NM_025243.4
p.G327Splc
c.980-14A>G
19 papers
NM_025243.4
p.S7*
c.20C>A
16 papers
NM_025243.4
p.S181P
c.541T>C
13 papers
NM_025243.4
p.S176Y
c.527C>A
13 papers
NM_025243.4
p.L385R
c.1154T>G
13 papers
NM_025243.4
p.S444R
c.1332C>G
12 papers
NM_025243.4
p.N173D
c.517A>G
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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."