Varaico: Literature-Extracted Genetic Variants

Gene:SLC46A1
Variant:p.R113S

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
13 papers
NM_080669.6
p.R113S
c.337C>A
Surrounding Variants
15 papers
NM_080669.6
p.R113C
c.337C>T
2 papers
NM_080669.6
p.R113P
c.338G>C
4 papers
NM_080669.6
p.R113H
c.338G>A
1 paper
NM_080669.6
p.G112delFs
c.335delC
2 papers
NM_080669.6
p.G112A
c.335G>C
1 paper
NM_080669.6
p.G112C
c.334G>T
5 papers
NM_080669.6
p.R114C
c.340C>T
1 paper
NM_080669.6
p.G112fs
c.334_335fs
1 paper
NM_080669.6
p.R114H
c.341G>A
1 paper
NM_080669.6
p.V111A
c.332T>C
1 paper
NM_080669.6
p.P115A
c.343C>G
1 paper
NM_080669.6
p.S110N
c.329G>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."