Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A3
Variant:p.L278P

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
3 papers
NM_025243.4
p.L278P
c.833T>C
Surrounding Variants
1 paper
NM_025243.4
p.R277C
c.829C>T
1 paper
NM_025243.4
p.S274_Y280del0
c.821_838del18
1 paper
NM_025243.4
p.D268_K276delins
c.802_827delinsGG
1 paper
NM_025243.4
p.W281*
c.842G>A
1 paper
NM_025243.4
p.W281*
c.843G>A
1 paper
NM_025243.4
p.S274A
c.820T>G
1 paper
NM_025243.4
p.Y273D
c.817T>G
4 papers
NM_025243.4
p.W284R
c.850T>C
2 papers
NM_025243.4
p.W284R
c.850T>A
1 paper
NM_025243.4
p.C272*
c.816C>A
2 papers
NM_025243.4
p.W285*
c.854G>A
2 papers
NM_025243.4
p.W285*
c.855G>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."