Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A3
Variant:p.Y124*

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
3 papers
NM_025243.4
p.Y124*
c.372C>G
Surrounding Variants
3 papers
NM_025243.4
p.Y124*
c.372C>A
1 paper
NM_025243.4
p.A125P
c.373G>C
1 paper
NM_025243.4
p.A125T
c.373G>A
4 papers
NM_025243.4
p.Y123C
c.368A>G
1 paper
NM_025243.4
p.Y126S
c.377A>C
1 paper
NM_025243.4
p.I127M
c.381A>G
1 paper
NM_025243.4
p.Y128H
c.382T>C
1 paper
NM_025243.4
p.Y128C
c.383A>G
1 paper
NM_025243.4
p.Y128*
c.384C>G
2 papers
NM_025243.4
p.Y128fs
c.382_383fs
1 paper
NM_025243.4
p.S129G
c.385A>G
1 paper
NM_025243.4
p.E120A
c.359A>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."