Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A1
Variant:p.P232P

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
5 papers
NM_194255.4
p.P232P
c.696T>C
Surrounding Variants
1 paper
NM_194255.4
p.G233R
c.697G>C
1 paper
NM_194255.4
p.G233G
c.699C>T
1 paper
NM_194255.4
p.P234L
c.701C>T
1 paper
NM_194255.4
p.G235S
c.703G>A
1 paper
NM_194255.4
p.S225*
c.674C>A
3 papers
NM_194255.4
p.H240R
c.719A>G
1 paper
NM_194255.4
p.A224T
c.670G>A
1 paper
NM_194255.4
p.S223P
c.667T>C
2 papers
NM_194255.4
p.R243W
c.727C>T
1 paper
NM_194255.4
p.T222I
c.665C>T
2 papers
NM_194255.4
p.C220S
c.659G>C
1 paper
NM_194255.4
p.C220S
c.658T>A
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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."