Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A3
Variant:p.N410H

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.N410H
c.1228A>C
Surrounding Variants
1 paper
NM_025243.4
p.F412S
c.1235T>C
1 paper
NM_025243.4
p.L405F
c.1215G>T
1 paper
NM_025243.4
p.L405F
c.1215G>C
1 paper
NM_025243.4
p.Y403C
c.1208A>G
1 paper
NM_025243.4
p.R402H
c.1205G>A
1 paper
NM_025243.4
p.R402C
c.1204C>T
1 paper
NM_025243.4
p.Q418E
c.1252C>G
1 paper
NM_025243.4
p.R402G
c.1204C>G
1 paper
NM_025243.4
p.Q418H
c.1254G>C
1 paper
NM_025243.4
p.V400L
c.1198G>T
1 paper
NM_025243.4
p.V400L
c.1198G>C
9 papers
NM_025243.4
p.N399I
c.1196A>T
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