Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A1
Variant:p.D88V

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
4 papers
NM_194255.4
p.D88V
c.263A>T
Surrounding Variants
1 paper
NM_194255.4
p.D88H
c.262G>C
2 papers
NM_194255.4
p.D88E
c.264C>G
2 papers
NM_194255.4
p.D88E
c.264C>A
1 paper
NM_194255.4
p.Y89C
c.266A>G
1 paper
NM_194255.4
p.L85L
c.255G>A
2 papers
NM_194255.4
p.L85P
c.254T>C
1 paper
NM_194255.4
p.F84C
c.251T>G
1 paper
NM_194255.4
p.V83G
c.248T>G
3 papers
NM_194255.4
p.P82P
c.246C>G
1 paper
NM_194255.4
p.L80L
c.240G>A
1 paper
NM_194255.4
p.L97L
c.289C>T
1 paper
NM_194255.4
p.L97L
c.291G>A
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