Varaico: Literature-Extracted Genetic Variants

Gene:SLC46A1

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
1–12 of 333 variants
23 papers
NM_080669.6
p.P425R
c.1274C>G
15 papers
NM_080669.6
p.R113C
c.337C>T
15 papers
NM_080669.6
p.D156Y
c.466G>T
13 papers
NM_080669.6
p.R113S
c.337C>A
13 papers
NM_080669.6
p.R376Q
c.1127G>A
12 papers
NM_080669.6
p.G147R
c.439G>C
11 papers
NM_080669.6
p.S318R
c.954C>G
11 papers
NM_080669.6
p.R376W
c.1126C>T
10 papers
NM_080669.6
p.S318R
c.952A>C
10 papers
NM_080669.6
p.S318R
c.954C>A
10 papers
NM_080669.6
p.G361Splc
c.1082-1G>A
8 papers
NM_080669.6
p.A335D
c.1004C>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."