Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A3
Variant:p.T464delFs

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.T464delFs
c.1390_1391delGT
Surrounding Variants
1 paper
NM_025243.4
p.T464fs
c.1390_1391fs
2 papers
NM_025243.4
p.Y462insFs
c.1385dupA
2 papers
NM_025243.4
p.K468fs
c.1402_1403fs
7 papers
NM_025243.4
p.K468delFs
c.1403delT
1 paper
NM_025243.4
p.V470insFs
c.1409_1410insT
1 paper
NM_025243.4
p.Q471delFs
c.1412delT
1 paper
NM_025243.4
p.S457R
c.1371C>G
1 paper
NM_025243.4
p.S457R
c.1371C>A
1 paper
NM_025243.4
p.S457N
c.1370G>A
1 paper
NM_025243.4
p.S457R
c.1369A>C
1 paper
NM_025243.4
p.M455R
c.1364T>G
1 paper
NM_025243.4
p.S476delFs
c.1427delC
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