Varaico: Literature-Extracted Genetic Variants

Gene:SLC46A1
Variant:p.S318R

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
10 papers
NM_080669.6
p.S318R
c.952A>C
Surrounding Variants
2 papers
NM_080669.6
p.S318C
c.952A>T
11 papers
NM_080669.6
p.S318R
c.954C>G
10 papers
NM_080669.6
p.S318R
c.954C>A
1 paper
NM_080669.6
p.L316V
c.946C>G
1 paper
NM_080669.6
p.Y315*
c.945C>G
1 paper
NM_080669.6
p.Y315F
c.944A>T
3 papers
NM_080669.6
p.Y315C
c.944A>G
1 paper
NM_080669.6
p.P314L
c.941C>T
1 paper
NM_080669.6
p.P314A
c.940C>G
1 paper
NM_080669.6
p.L324L
c.972C>T
1 paper
NM_080669.6
p.A310T
c.928G>A
1 paper
NM_080669.6
p.Y327D
c.979T>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."