Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A3
Variant:p.S179fs

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.S179fs
c.535_536fs
Surrounding Variants
1 paper
NM_025243.4
p.A178delFs
c.533delG
1 paper
NM_025243.4
p.A178fs
c.532_533fs
16 papers
NM_025243.4
p.S181P
c.541T>C
1 paper
NM_025243.4
p.S181F
c.542C>T
1 paper
NM_025243.4
p.L177W
c.530T>G
1 paper
NM_025243.4
p.V182M
c.544G>A
13 papers
NM_025243.4
p.S176Y
c.527C>A
1 paper
NM_025243.4
p.S176T
c.526T>A
5 papers
NM_025243.4
p.A183V
c.548C>T
1 paper
NM_025243.4
p.I175M
c.525A>G
1 paper
NM_025243.4
p.V174F
c.520G>T
2 papers
NM_025243.4
p.N173fs
c.517_518fs
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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."