Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A3
Variant:p.T388S

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.T388S
c.1163C>G
Surrounding Variants
2 papers
NM_025243.4
p.M384_I387del4
c.1150_1160del12
1 paper
NM_025243.4
p.T388S
c.1162A>T
1 paper
NM_025243.4
p.T388delFs
c.1164delG
1 paper
NM_025243.4
p.I389T
c.1166T>C
1 paper
NM_025243.4
p.V391ins1
c.1172_1173insCAT
13 papers
NM_025243.4
p.L385R
c.1154T>G
2 papers
NM_025243.4
p.L385P
c.1154T>C
3 papers
NM_025243.4
p.V391Splc
c.1172+1G>A
1 paper
NM_025243.4
p.V391Splc
c.1172+2T>G
1 paper
NM_025243.4
p.Y383delFs
c.1148_1149delAT
1 paper
NM_025243.4
p.V391Splc
c.1172+5G>C
2 papers
NM_025243.4
p.S382N
c.1145G>A
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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."