Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A3
Variant:p.Q418E

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.Q418E
c.1252C>G
Surrounding Variants
1 paper
NM_025243.4
p.Q418H
c.1254G>C
1 paper
NM_025243.4
p.M421R
c.1262T>G
1 paper
NM_025243.4
p.M421Fs
c.1262delinsGGGFs
51 papers
NM_025243.4
p.T422A
c.1264A>G
1 paper
NM_025243.4
p.T422I
c.1265C>T
1 paper
NM_025243.4
p.F412S
c.1235T>C
1 paper
NM_025243.4
p.V426I
c.1276G>A
1 paper
NM_025243.4
p.N410H
c.1228A>C
1 paper
NM_025243.4
p.D427H
c.1279G>C
2 papers
NM_025243.4
p.V426_D427del1
c.1277_1279delCTA
3 papers
NM_025243.4
p.G430R
c.1288G>C
5 papers
NM_025243.4
p.G430R
c.1288G>A
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