Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A3
Variant:p.N293_V295Fs

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
1 paper
NM_025243.4
p.N293_V295Fs
c.877_884delinsCAGGFs
Surrounding Variants
1 paper
NM_025243.4
p.V295delFs
c.885delA
1 paper
NM_025243.4
p.N293fs
c.877_878fs
1 paper
NM_025243.4
p.Y298C
c.893A>G
3 papers
NM_025243.4
p.Y298*
c.894T>G
2 papers
NM_025243.4
p.Y298*
c.894T>A
2 papers
NM_025243.4
p.V299fs
c.895_896fs
3 papers
NM_025243.4
p.V299fs
c.895_896fs
1 paper
NM_025243.4
p.A290insFs
c.868_869insT
2 papers
NM_025243.4
p.I301V
c.901A>G
4 papers
NM_025243.4
p.T289A
c.865A>G
2 papers
NM_025243.4
p.L302P
c.905T>C
1 paper
NM_025243.4
p.A288V
c.863C>T
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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."