Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A3
Variant:p.L360fs

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
5 papers
NM_025243.4
p.L360fs
c.1078_1079fs
Surrounding Variants
9 papers
NM_025243.4
p.L360insFs
c.1079dupT
1 paper
NM_025243.4
p.A357V
c.1070C>T
1 paper
NM_025243.4
p.M363T
c.1088T>C
1 paper
NM_025243.4
p.F352L
c.1056C>G
1 paper
NM_025243.4
p.F352L
c.1056C>A
1 paper
NM_025243.4
p.F352V
c.1054T>G
1 paper
NM_025243.4
p.F352L
c.1054T>C
1 paper
NM_025243.4
p.V351A
c.1052T>C
1 paper
NM_025243.4
p.V351D
c.1052T>A
1 paper
NM_025243.4
p.V350A
c.1049T>C
1 paper
NM_025243.4
p.A371A
c.1113G>A
1 paper
NM_025243.4
p.C372Y
c.1115G>A
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