Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A1
Variant:p.S249L

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
5 papers
NM_194255.4
p.S249L
c.746C>T
Surrounding Variants
1 paper
NM_194255.4
p.D248N
c.742G>A
1 paper
NM_194255.4
p.G247E
c.740G>A
1 paper
NM_194255.4
p.A252P
c.754G>C
1 paper
NM_194255.4
p.C246S
c.737G>C
1 paper
NM_194255.4
p.C246S
c.736T>A
1 paper
NM_194255.4
p.A252A
c.756G>C
1 paper
NM_194255.4
p.M254T
c.761T>C
2 papers
NM_194255.4
p.R243W
c.727C>T
1 paper
NM_194255.4
p.E257A
c.770A>C
3 papers
NM_194255.4
p.H240R
c.719A>G
1 paper
NM_194255.4
p.G259W
c.775G>T
1 paper
NM_194255.4
p.D260V
c.779A>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."