Varaico: Literature-Extracted Genetic Variants

Gene:SLC46A1
Variant:p.R249*

SLC46A1

153 papers

RefSeq Summary

This gene encodes a transmembrane proton-coupled folate transporter protein that facilitates the movement of folate and antifolate substrates across cell membranes, optimally in acidic pH environments...

Pfam Domains

MFS_1aa 28–407UCSCMajor Facilitator Superfamily

Gene Aliases

HGNC Name

solute carrier family 46 member 1

HGNC Alias Symbols

HCP1; MGC9564; PCFT; HsPCFT; hPCFT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_080669.6
p.R249*
c.745C>T
Surrounding Variants
1 paper
NM_080669.6
p.R249Q
c.746G>A
1 paper
NM_080669.6
p.S250A
c.748T>G
2 papers
NM_080669.6
p.H247Q
c.741C>G
1 paper
NM_080669.6
p.S250C
c.749C>G
2 papers
NM_080669.6
p.H247Q
c.741C>A
2 papers
NM_080669.6
p.H247R
c.740A>G
1 paper
NM_080669.6
p.H247P
c.740A>C
2 papers
NM_080669.6
p.V252V
c.756C>G
1 paper
NM_080669.6
p.F243L
c.729C>G
1 paper
NM_080669.6
p.F243L
c.729C>A
1 paper
NM_080669.6
p.F243L
c.727T>C
1 paper
NM_080669.6
p.R241W
c.721C>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."