Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A1
Variant:p.R179Q

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
2 papers
NM_194255.4
p.R179Q
c.536G>A
Surrounding Variants
1 paper
NM_194255.4
p.V180I
c.538G>A
1 paper
NM_194255.4
p.V180D
c.539T>A
1 paper
NM_194255.4
p.G178C
c.532G>T
1 paper
NM_194255.4
p.G178S
c.532G>A
1 paper
NM_194255.4
p.L174L
c.522G>A
3 papers
NM_194255.4
p.L174P
c.521T>C
1 paper
NM_194255.4
p.T184M
c.551C>T
1 paper
NM_194255.4
p.L173L
c.517C>T
1 paper
NM_194255.4
p.Q172H
c.516G>T
1 paper
NM_194255.4
p.Q172H
c.516G>C
1 paper
NM_194255.4
p.L185_Y187Fs
c.554_559delinsTGTGFs
1 paper
NM_194255.4
p.G171D
c.512G>A
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