Varaico: Literature-Extracted Genetic Variants

Gene:SLC46A1
Variant:p.S100A

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.S100A
c.298T>G
Surrounding Variants
2 papers
NM_080669.6
p.F99L
c.297C>G
2 papers
NM_080669.6
p.F99L
c.297C>A
1 paper
NM_080669.6
p.F99C
c.296T>G
2 papers
NM_080669.6
p.F99L
c.295T>C
2 papers
NM_080669.6
p.F99I
c.295T>A
1 paper
NM_080669.6
p.S101C
c.302C>G
1 paper
NM_080669.6
p.L98L
c.294C>A
3 papers
NM_080669.6
p.G97A
c.290G>C
1 paper
NM_080669.6
p.V96A
c.287T>C
1 paper
NM_080669.6
p.G105A
c.314G>C
1 paper
NM_080669.6
p.F94C
c.281T>G
3 papers
NM_080669.6
p.G93A
c.278G>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."