Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A3
Variant:p.E320A

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.E320A
c.959A>C
Surrounding Variants
30 papers
NM_025243.4
p.E320Q
c.958G>C
2 papers
NM_025243.4
p.E320K
c.958G>A
6 papers
NM_025243.4
p.A321V
c.962C>T
1 paper
NM_025243.4
p.V319I
c.955G>A
3 papers
NM_025243.4
p.A318T
c.952G>A
2 papers
NM_025243.4
p.G317E
c.950G>A
2 papers
NM_025243.4
p.N316T
c.947A>C
1 paper
NM_025243.4
p.G327Splc
c.979+2T>G
8 papers
NM_025243.4
p.V299_S309delFs
c.895_925del31
1 paper
NM_025243.4
p.A307A
c.921G>A
1 paper
NM_025243.4
p.A307P
c.919G>C
1 paper
NM_025243.4
p.K306*
c.916A>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."