Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A3
Variant:p.Q248H

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.Q248H
c.744G>T
Surrounding Variants
1 paper
NM_025243.4
p.Q248H
c.744G>C
1 paper
NM_025243.4
p.P254insFs
c.760_761insT
1 paper
NM_025243.4
p.V257M
c.769G>A
1 paper
NM_025243.4
p.V259delFs
c.776_777delCA
1 paper
NM_025243.4
p.F262S
c.785T>C
3 papers
NM_025243.4
p.P233S
c.697C>T
1 paper
NM_025243.4
p.W265C
c.795G>T
1 paper
NM_025243.4
p.W265C
c.795G>C
1 paper
NM_025243.4
p.A225_Q231del0
c.675_692del18
1 paper
NM_025243.4
p.Q267insFs
c.800_801insT
1 paper
NM_025243.4
p.Q267Q
c.801A>G
1 paper
NM_025243.4
p.E229K
c.685G>A
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