Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A1
Variant:p.Y281C

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.Y281C
c.842A>G
Surrounding Variants
1 paper
NM_194255.4
p.Y282C
c.845A>G
1 paper
NM_194255.4
p.G280C
c.838G>T
1 paper
NM_194255.4
p.Y282Y
c.846C>T
1 paper
NM_194255.4
p.L283V
c.847C>G
2 papers
NM_194255.4
p.V284V
c.852G>A
1 paper
NM_194255.4
p.V285A
c.854T>C
1 paper
NM_194255.4
p.F276F
c.828C>T
1 paper
NM_194255.4
p.F276C
c.827T>G
1 paper
NM_194255.4
p.Y286F
c.857A>T
1 paper
NM_194255.4
p.Y286C
c.857A>G
1 paper
NM_194255.4
p.Y287H
c.859T>C
1 paper
NM_194255.4
p.V275V
c.825C>G
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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."