Varaico: Literature-Extracted Genetic Variants

Gene:SLC46A1
Variant:p.A273S

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.A273S
c.817G>T
Surrounding Variants
1 paper
NM_080669.6
p.F275C
c.824T>G
1 paper
NM_080669.6
p.Y270C
c.809A>G
1 paper
NM_080669.6
p.A268T
c.802G>A
1 paper
NM_080669.6
p.F282C
c.845T>G
1 paper
NM_080669.6
p.K262K
c.786G>A
2 papers
NM_080669.6
p.E261*
c.781G>T
1 paper
NM_080669.6
p.P260A
c.778C>G
1 paper
NM_080669.6
p.Y291F
c.872A>T
1 paper
NM_080669.6
p.Y291C
c.872A>G
2 papers
NM_080669.6
p.V252V
c.756C>G
2 papers
NM_080669.6
p.T295A
c.883A>G
1 paper
NM_080669.6
p.S250C
c.749C>G
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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."