Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A3
Variant:p.A288T

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.A288T
c.862G>A
Surrounding Variants
1 paper
NM_025243.4
p.A288V
c.863C>T
4 papers
NM_025243.4
p.T289A
c.865A>G
1 paper
NM_025243.4
p.A290insFs
c.868_869insT
2 papers
NM_025243.4
p.W285*
c.855G>A
2 papers
NM_025243.4
p.W285*
c.854G>A
4 papers
NM_025243.4
p.W284R
c.850T>C
2 papers
NM_025243.4
p.W284R
c.850T>A
1 paper
NM_025243.4
p.N293fs
c.877_878fs
1 paper
NM_025243.4
p.W281*
c.843G>A
1 paper
NM_025243.4
p.W281*
c.842G>A
1 paper
NM_025243.4
p.N293_V295Fs
c.877_884delinsCAGGFs
1 paper
NM_025243.4
p.S274_Y280del0
c.821_838del18
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