Varaico: Literature-Extracted Genetic Variants

Gene:SLC46A1
Variant:p.R376W

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
11 papers
NM_080669.6
p.R376W
c.1126C>T
Surrounding Variants
1 paper
NM_080669.6
p.R376L
c.1127G>T
13 papers
NM_080669.6
p.R376Q
c.1127G>A
1 paper
NM_080669.6
p.L379L
c.1137C>G
1 paper
NM_080669.6
p.E387K
c.1159G>A
1 paper
NM_080669.6
p.L364*
c.1091T>A
1 paper
NM_080669.6
p.Y362F
c.1085A>T
1 paper
NM_080669.6
p.Y362C
c.1085A>G
1 paper
NM_080669.6
p.G361E
c.1082G>A
10 papers
NM_080669.6
p.G361Splc
c.1082-1G>A
1 paper
NM_080669.6
p.G389fs
c.1165_1166fs
1 paper
NM_080669.6
p.L391_F392ins5
c.1171_1175ins15
3 papers
NM_080669.6
p.F392V
c.1174T>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."