Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A3
Variant:p.L46P

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
Selected Variant
2 papers
NM_025243.4
p.L46P
c.137T>C
Surrounding Variants
23 papers
NM_025243.4
p.K44E
c.130A>G
1 paper
NM_025243.4
p.E50*
c.148G>T
1 paper
NM_025243.4
p.E50A
c.149A>C
1 paper
NM_025243.4
p.E50delFs
c.149delT
2 papers
NM_025243.4
p.E50_I51Splc
c.150+2T>C
2 papers
NM_025243.4
p.G41R
c.121G>C
1 paper
NM_025243.4
p.G41R
c.121G>A
1 paper
NM_025243.4
p.Y38C
c.113A>G
1 paper
NM_025243.4
p.Y38H
c.112T>C
1 paper
NM_025243.4
p.P37delFs
c.111delT
1 paper
NM_025243.4
p.F34V
c.100T>G
1 paper
NM_025243.4
p.P33P
c.99A>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."