Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A1
Variant:p.P18L

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.P18L
c.53C>T
Surrounding Variants
1 paper
NM_194255.4
p.G17A
c.50G>C
2 papers
NM_194255.4
p.D19G
c.56A>G
1 paper
NM_194255.4
p.D19ins2
c.55_56ins6
1 paper
NM_194255.4
p.P16P
c.48T>A
1 paper
NM_194255.4
p.P20P
c.60C>T
2 papers
NM_194255.4
p.E21K
c.61G>A
1 paper
NM_194255.4
p.E21A
c.62A>C
1 paper
NM_194255.4
p.L22F
c.64C>T
1 paper
NM_194255.4
p.R23Q
c.68G>A
1 paper
NM_194255.4
p.R23del1
c.67_68delCCG
1 paper
NM_194255.4
p.V12V
c.36G>C
1 paper
NM_194255.4
p.V12L
c.34G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."