Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A1
Variant:p.A147V

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.A147V
c.440C>T
Surrounding Variants
3 papers
NM_194255.4
p.R148G
c.442C>G
1 paper
NM_194255.4
p.R145W
c.433C>T
1 paper
NM_194255.4
p.Q150R
c.449A>G
1 paper
NM_194255.4
p.R151C
c.451C>T
3 papers
NM_194255.4
p.L143P
c.428T>C
1 paper
NM_194255.4
p.R151H
c.452G>A
1 paper
NM_194255.4
p.R151R
c.453T>A
1 paper
NM_194255.4
p.V152L
c.454G>C
2 papers
NM_194255.4
p.S142F
c.425C>T
1 paper
NM_194255.4
p.S142C
c.425C>G
1 paper
NM_194255.4
p.F141C
c.422T>G
1 paper
NM_194255.4
p.F141Y
c.422T>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."