Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A3
Variant:p.M197I

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.M197I
c.591G>A
Surrounding Variants
1 paper
NM_025243.4
p.M197I
c.591G>T
1 paper
NM_025243.4
p.M197I
c.591G>C
1 paper
NM_025243.4
p.F198L
c.592T>C
2 papers
NM_025243.4
p.F198S
c.593T>C
1 paper
NM_025243.4
p.F198L
c.594T>G
1 paper
NM_025243.4
p.F198L
c.594T>A
1 paper
NM_025243.4
p.F199I
c.595T>A
1 paper
NM_025243.4
p.S196insFs
c.587_588ins4
6 papers
NM_025243.4
p.H200fs
c.598_599fs
12 papers
NM_025243.4
p.F199insFs
c.597dupT
1 paper
NM_025243.4
p.H200R
c.599A>G
3 papers
NM_025243.4
p.H200fs
c.598_599fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."