Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A3
Variant:p.S168_Y169del1

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
5 papers
NM_025243.4
p.S168_Y169del1
c.503_505delACG
Surrounding Variants
9 papers
NM_025243.4
p.Y169*
c.507C>G
6 papers
NM_025243.4
p.Y169*
c.507C>A
1 paper
NM_025243.4
p.S168W
c.503C>G
1 paper
NM_025243.4
p.M167L
c.499A>T
1 paper
NM_025243.4
p.M167L
c.499A>C
2 papers
NM_025243.4
p.N173fs
c.517_518fs
12 papers
NM_025243.4
p.N173D
c.517A>G
3 papers
NM_025243.4
p.L172delFs
c.516delG
1 paper
NM_025243.4
p.A165E
c.494C>A
1 paper
NM_025243.4
p.V174F
c.520G>T
1 paper
NM_025243.4
p.L164P
c.491T>C
5 papers
NM_025243.4
p.S163P
c.487T>C
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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."