Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A1
Variant:p.A558V

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
3 papers
NM_194255.4
p.A558V
c.1673C>T
Surrounding Variants
1 paper
NM_194255.4
p.A559V
c.1676C>T
1 paper
NM_194255.4
p.P564R
c.1691C>G
1 paper
NM_194255.4
p.L566L
c.1696C>T
1 paper
NM_194255.4
p.P570L
c.1709C>T
1 paper
NM_194255.4
p.S574T
c.1721G>C
1 paper
NM_194255.4
p.C580Y
c.1739G>A
1 paper
NM_194255.4
p.A534V
c.1601C>T
1 paper
NM_194255.4
p.A533G
c.1598C>G
1 paper
NM_194255.4
p.A533T
c.1597G>A
1 paper
NM_194255.4
p.Q532ins2
c.1594_1595ins6
1 paper
NM_194255.4
p.P531L
c.1592C>T
1 paper
NM_194255.4
p.Q587L
c.1760A>T
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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."