Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A3
Variant:p.G141S

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
4 papers
NM_025243.4
p.G141S
c.421G>A
Surrounding Variants
1 paper
NM_025243.4
p.Y142C
c.425A>G
8 papers
NM_025243.4
p.V139E
c.416T>A
1 paper
NM_025243.4
p.Y142delFs
c.426delG
1 paper
NM_025243.4
p.V139L
c.415G>C
1 paper
NM_025243.4
p.R138G
c.412A>G
1 paper
NM_025243.4
p.Q137insFs
c.410dupA
1 paper
NM_025243.4
p.Q137R
c.410A>G
1 paper
NM_025243.4
p.Q137P
c.410A>C
1 paper
NM_025243.4
p.V146insFs
c.437_438insGT
1 paper
NM_025243.4
p.T147fs
c.439_440fs
1 paper
NM_025243.4
p.E134*
c.400G>T
2 papers
NM_025243.4
p.A150T
c.448G>A
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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."