Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A3
Variant:p.N53D

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
8 papers
NM_025243.4
p.N53D
c.157A>G
Surrounding Variants
1 paper
NM_025243.4
p.E54K
c.160G>A
5 papers
NM_025243.4
p.I51M
c.153A>G
1 paper
NM_025243.4
p.E50_I51Splc
c.151-2A>T
2 papers
NM_025243.4
p.P57S
c.169C>T
1 paper
NM_025243.4
p.V58F
c.172G>T
2 papers
NM_025243.4
p.V58I
c.172G>A
1 paper
NM_025243.4
p.P57delFs
c.171delG
2 papers
NM_025243.4
p.W59R
c.175T>C
2 papers
NM_025243.4
p.W59R
c.175T>A
1 paper
NM_025243.4
p.W59*
c.177G>A
2 papers
NM_025243.4
p.Y63H
c.187T>C
1 paper
NM_025243.4
p.Y63*
c.189C>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."