Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A3
Variant:p.S444R

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
13 papers
NM_025243.4
p.S444R
c.1332C>G
Surrounding Variants
10 papers
NM_025243.4
p.S444R
c.1332C>A
9 papers
NM_025243.4
p.S444R
c.1330A>C
1 paper
NM_025243.4
p.Y442F
c.1325A>T
1 paper
NM_025243.4
p.V441A
c.1322T>C
1 paper
NM_025243.4
p.V448A
c.1343T>C
1 paper
NM_025243.4
p.A450V
c.1349C>T
1 paper
NM_025243.4
p.A450G
c.1349C>G
2 papers
NM_025243.4
p.I452T
c.1355T>C
1 paper
NM_025243.4
p.M455R
c.1364T>G
1 paper
NM_025243.4
p.S457R
c.1369A>C
1 paper
NM_025243.4
p.S457N
c.1370G>A
1 paper
NM_025243.4
p.S457R
c.1371C>G
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