Varaico: Literature-Extracted Genetic Variants

Gene:SLC46A1
Variant:p.L224V

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
1 paper
NM_080669.6
p.L224V
c.670C>G
Surrounding Variants
1 paper
NM_080669.6
p.M222R
c.665T>G
3 papers
NM_080669.6
p.A226V
c.677C>T
2 papers
NM_080669.6
p.F228C
c.683T>G
1 paper
NM_080669.6
p.L219R
c.656T>G
3 papers
NM_080669.6
p.C229S
c.685T>A
3 papers
NM_080669.6
p.C229S
c.686G>C
1 paper
NM_080669.6
p.F230fs
c.688_689fs
2 papers
NM_080669.6
p.F230C
c.689T>G
2 papers
NM_080669.6
p.G231C
c.691G>T
1 paper
NM_080669.6
p.F230delFs
c.690delA
2 papers
NM_080669.6
p.E232G
c.695A>G
1 paper
NM_080669.6
p.E232A
c.695A>C
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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."