Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A3
Variant:p.S7*

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
10 papers
NM_025243.4
p.S7*
c.20C>G
Surrounding Variants
19 papers
NM_025243.4
p.S7*
c.20C>A
1 paper
NM_025243.4
p.T6T
c.18T>A
1 paper
NM_025243.4
p.T6S
c.17C>G
1 paper
NM_025243.4
p.T6S
c.16A>T
1 paper
NM_025243.4
p.C3fs
c.7_8fs
1 paper
NM_025243.4
p.C3S
c.8G>C
1 paper
NM_025243.4
p.C3Y
c.8G>A
1 paper
NM_025243.4
p.C3S
c.7T>A
1 paper
NM_025243.4
p.W12C
c.36G>T
1 paper
NM_025243.4
p.W12C
c.36G>C
1 paper
NM_025243.4
p.W12*
c.36G>A
1 paper
NM_025243.4
p.P15L
c.44C>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."