Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A1
Variant:p.S209I

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.S209I
c.626G>T
Surrounding Variants
1 paper
NM_194255.4
p.S209C
c.625A>T
1 paper
NM_194255.4
p.R208C
c.622C>T
1 paper
NM_194255.4
p.F211C
c.632T>G
1 paper
NM_194255.4
p.F211F
c.633C>T
1 paper
NM_194255.4
p.F212C
c.635T>G
1 paper
NM_194255.4
p.P206A
c.616C>G
2 papers
NM_194255.4
p.F212del1
c.634_635delGAA
2 papers
NM_194255.4
p.R205C
c.613C>T
2 papers
NM_194255.4
p.R214C
c.640C>T
1 paper
NM_194255.4
p.R214R
c.642C>T
1 paper
NM_194255.4
p.L203L
c.609G>T
1 paper
NM_194255.4
p.F202C
c.605T>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."