Varaico: Literature-Extracted Genetic Variants

Gene:SLC46A1
Variant:p.G142D

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.G142D
c.425G>A
Surrounding Variants
1 paper
NM_080669.6
p.V145fs
c.433_434fs
1 paper
NM_080669.6
p.G147C
c.439G>T
12 papers
NM_080669.6
p.G147R
c.439G>C
1 paper
NM_080669.6
p.R148C
c.442C>T
2 papers
NM_080669.6
p.R148L
c.443G>T
1 paper
NM_080669.6
p.V134E
c.401T>A
1 paper
NM_080669.6
p.V145_L150delFs
c.433_448del16
2 papers
NM_080669.6
p.C151S
c.451T>A
2 papers
NM_080669.6
p.C151S
c.452G>C
1 paper
NM_080669.6
p.V132L
c.394G>C
1 paper
NM_080669.6
p.V132I
c.394G>A
1 paper
NM_080669.6
p.S131insFs
c.391_392ins5
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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."