Varaico: Literature-Extracted Genetic Variants

Gene:SLC46A1
Variant:p.P425R

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
23 papers
NM_080669.6
p.P425R
c.1274C>G
Surrounding Variants
1 paper
NM_080669.6
p.P425S
c.1273C>T
1 paper
NM_080669.6
p.P425A
c.1273C>G
1 paper
NM_080669.6
p.F426V
c.1276T>G
1 paper
NM_080669.6
p.F424C
c.1271T>G
1 paper
NM_080669.6
p.G423delFs
c.1268delC
1 paper
NM_080669.6
p.G423fs
c.1267_1268fs
1 paper
NM_080669.6
p.K422R
c.1265A>G
1 paper
NM_080669.6
p.K422*
c.1264A>T
2 papers
NM_080669.6
p.K422E
c.1264A>G
1 paper
NM_080669.6
p.G429R
c.1285G>C
1 paper
NM_080669.6
p.L432H
c.1295T>A
1 paper
NM_080669.6
p.P415delFs
c.1244delG
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