Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A1
Variant:p.S167C

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.S167C
c.499A>T
Surrounding Variants
1 paper
NM_194255.4
p.T166A
c.496A>G
1 paper
NM_194255.4
p.S168F
c.503C>T
2 papers
NM_194255.4
p.S168C
c.503C>G
1 paper
NM_194255.4
p.F165delFs
c.494delA
1 paper
NM_194255.4
p.F165C
c.494T>G
2 papers
NM_194255.4
p.G171C
c.511G>T
2 papers
NM_194255.4
p.G163C
c.487G>T
1 paper
NM_194255.4
p.G171D
c.512G>A
3 papers
NM_194255.4
p.L162L
c.484C>T
1 paper
NM_194255.4
p.L161R
c.482T>G
1 paper
NM_194255.4
p.L161delFs
c.481delG
1 paper
NM_194255.4
p.Q172H
c.516G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."