Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A1

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
1–12 of 457 variants
145 papers
NM_194255.4
p.H27R
c.80A>G
16 papers
NM_194255.4
p.Q433P
c.1298A>C
8 papers
NM_194255.4
p.E45K
c.133G>A
6 papers
NM_194255.4
p.S46N
c.137G>A
6 papers
NM_194255.4
p.I48F
c.142A>T
5 papers
NM_194255.4
p.P232P
c.696T>C
5 papers
NM_194255.4
p.S249L
c.746C>T
4 papers
NM_194255.4
p.G44R
c.130G>C
4 papers
NM_194255.4
p.G44R
c.130G>A
4 papers
NM_194255.4
p.G44E
c.131G>A
4 papers
NM_194255.4
p.D88V
c.263A>T
4 papers
NM_194255.4
p.S138C
c.413C>G
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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."