Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A1
Variant:p.L112R

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.L112R
c.335T>G
Surrounding Variants
1 paper
NM_194255.4
p.G113C
c.337G>T
1 paper
NM_194255.4
p.G113A
c.338G>C
1 paper
NM_194255.4
p.L111L
c.331C>T
1 paper
NM_194255.4
p.S115P
c.343T>C
1 paper
NM_194255.4
p.S115S
c.345G>T
1 paper
NM_194255.4
p.V116V
c.348G>C
1 paper
NM_194255.4
p.W107C
c.321G>T
1 paper
NM_194255.4
p.W107C
c.321G>C
1 paper
NM_194255.4
p.A117E
c.350C>A
1 paper
NM_194255.4
p.W107G
c.319T>G
1 paper
NM_194255.4
p.H118Y
c.352C>T
1 paper
NM_194255.4
p.S105A
c.313T>G
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