Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A3
Variant:p.G102E

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.G102E
c.305G>A
Surrounding Variants
2 papers
NM_025243.4
p.G102R
c.304G>A
1 paper
NM_025243.4
p.V103insFs
c.307dupG
3 papers
NM_025243.4
p.G100R
c.298G>C
1 paper
NM_025243.4
p.Q107K
c.319C>A
1 paper
NM_025243.4
p.V109A
c.326T>C
1 paper
NM_025243.4
p.E110Q
c.328G>C
1 paper
NM_025243.4
p.E110K
c.328G>A
1 paper
NM_025243.4
p.E110G
c.329A>G
1 paper
NM_025243.4
p.E110A
c.329A>C
8 papers
NM_025243.4
p.W94R
c.280T>C
5 papers
NM_025243.4
p.W94R
c.280T>A
1 paper
NM_025243.4
p.F111L
c.331T>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."