Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A1
Variant:p.A39G

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.A39G
c.116C>G
Surrounding Variants
1 paper
NM_194255.4
p.A39A
c.117G>C
1 paper
NM_194255.4
p.A39T
c.115G>A
1 paper
NM_194255.4
p.Q40H
c.120G>T
1 paper
NM_194255.4
p.Q40H
c.120G>C
1 paper
NM_194255.4
p.M38V
c.112A>G
1 paper
NM_194255.4
p.F37F
c.111C>T
1 paper
NM_194255.4
p.F37insFs
c.110dupT
1 paper
NM_194255.4
p.F37C
c.110T>G
1 paper
NM_194255.4
p.R42Q
c.125G>A
1 paper
NM_194255.4
p.R42R
c.126G>T
1 paper
NM_194255.4
p.G36C
c.106G>T
1 paper
NM_194255.4
p.G36S
c.106G>A
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