Varaico: Literature-Extracted Genetic Variants

Gene:SLC46A1
Variant:p.S164C

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.S164C
c.490A>T
Surrounding Variants
1 paper
NM_080669.6
p.F165C
c.494T>G
3 papers
NM_080669.6
p.L161R
c.482T>G
1 paper
NM_080669.6
p.S167C
c.500C>G
1 paper
NM_080669.6
p.G159A
c.476G>C
1 paper
NM_080669.6
p.G159C
c.475G>T
2 papers
NM_080669.6
p.G158C
c.472G>T
1 paper
NM_080669.6
p.F157C
c.470T>G
3 papers
NM_080669.6
p.V171D
c.512T>A
1 paper
NM_080669.6
p.D156E
c.468C>G
1 paper
NM_080669.6
p.D156E
c.468C>A
1 paper
NM_080669.6
p.D156V
c.467A>T
1 paper
NM_080669.6
p.D156G
c.467A>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."