Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A1
Variant:p.S138C

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.S138C
c.413C>G
Surrounding Variants
1 paper
NM_194255.4
p.S138P
c.412T>C
1 paper
NM_194255.4
p.Y139H
c.415T>C
1 paper
NM_194255.4
p.S137C
c.410C>G
1 paper
NM_194255.4
p.Y139C
c.416A>G
1 paper
NM_194255.4
p.Y139Y
c.417C>T
1 paper
NM_194255.4
p.Y136Y
c.408T>C
1 paper
NM_194255.4
p.Y136*
c.408T>A
1 paper
NM_194255.4
p.Y136C
c.407A>G
1 paper
NM_194255.4
p.Y136S
c.407A>C
1 paper
NM_194255.4
p.F141I
c.421T>A
1 paper
NM_194255.4
p.F141C
c.422T>G
1 paper
NM_194255.4
p.F141Y
c.422T>A
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