Varaico: Literature-Extracted Genetic Variants

Gene:SLC46A1
Variant:p.G389fs

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.G389fs
c.1165_1166fs
Surrounding Variants
1 paper
NM_080669.6
p.L391_F392ins5
c.1171_1175ins15
3 papers
NM_080669.6
p.F392V
c.1174T>G
1 paper
NM_080669.6
p.F392L
c.1174T>C
1 paper
NM_080669.6
p.F392C
c.1175T>G
1 paper
NM_080669.6
p.F392S
c.1175T>C
2 papers
NM_080669.6
p.F392Y
c.1175T>A
1 paper
NM_080669.6
p.F392L
c.1176T>G
1 paper
NM_080669.6
p.F392L
c.1176T>A
1 paper
NM_080669.6
p.S393fs
c.1177_1178fs
2 papers
NM_080669.6
p.C397S
c.1189T>A
2 papers
NM_080669.6
p.C397S
c.1190G>C
1 paper
NM_080669.6
p.T405M
c.1214C>T
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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."