Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A3
Variant:p.A328delFs

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
8 papers
NM_025243.4
p.A328delFs
c.982delC
Surrounding Variants
10 papers
NM_025243.4
p.A328fs
c.982_983fs
1 paper
NM_025243.4
p.A328delFs
c.984delA
4 papers
NM_025243.4
p.G327fs
c.979_980fs
1 paper
NM_025243.4
p.A331_F332insFs
c.993_996dup4
1 paper
NM_025243.4
p.V334L
c.1000G>T
23 papers
NM_025243.4
p.G327Splc
c.980-14A>G
1 paper
NM_025243.4
p.G335R
c.1003G>C
1 paper
NM_025243.4
p.G335S
c.1003G>A
1 paper
NM_025243.4
p.Y336fs
c.1006_1007fs
1 paper
NM_025243.4
p.G345R
c.1033G>C
1 paper
NM_025243.4
p.G345R
c.1033G>A
1 paper
NM_025243.4
p.E346A
c.1037A>C
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