Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A1
Variant:p.T314M

SLC19A1

506 papers

RefSeq Summary

The membrane protein encoded by this gene is a transporter of folate and is involved in the regulation of intracellular concentrations of folate. Three transcript variants encoding different isoforms ...

Pfam Domains

Folate_carrieraa 23–434UCSCReduced folate carrier

Gene Aliases

HGNC Name

solute carrier family 19 member 1

HGNC Alias Symbols

FOLT; IFC-1; hRFC; RFT-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_194255.4
p.T314M
c.941C>T
Surrounding Variants
1 paper
NM_194255.4
p.S313C
c.938C>G
1 paper
NM_194255.4
p.S313A
c.937T>G
1 paper
NM_194255.4
p.S313T
c.937T>A
1 paper
NM_194255.4
p.D310A
c.929A>C
1 paper
NM_194255.4
p.A309V
c.926C>T
1 paper
NM_194255.4
p.A309T
c.925G>A
1 paper
NM_194255.4
p.G317Splc
c.949+9G>A
1 paper
NM_194255.4
p.A308A
c.924G>A
1 paper
NM_194255.4
p.G307G
c.921C>T
1 paper
NM_194255.4
p.N306N
c.918C>T
1 paper
NM_194255.4
p.S301N
c.902G>A
1 paper
NM_194255.4
p.S301C
c.901A>T
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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."