Varaico: Literature-Extracted Genetic Variants

Gene:SLC46A1
Variant:p.I409fs

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
4 papers
NM_080669.6
p.I409fs
c.1225_1226fs
Surrounding Variants
1 paper
NM_080669.6
p.I409delFs
c.1226delA
1 paper
NM_080669.6
p.N411D
c.1231A>G
1 paper
NM_080669.6
p.N411H
c.1231A>C
1 paper
NM_080669.6
p.N411T
c.1232A>C
2 papers
NM_080669.6
p.N411K
c.1233C>G
2 papers
NM_080669.6
p.N411K
c.1233C>A
1 paper
NM_080669.6
p.S407C
c.1220C>G
1 paper
NM_080669.6
p.L413P
c.1238T>C
1 paper
NM_080669.6
p.T405M
c.1214C>T
1 paper
NM_080669.6
p.Y414F
c.1241A>T
1 paper
NM_080669.6
p.Y414C
c.1241A>G
1 paper
NM_080669.6
p.P415delFs
c.1244delG
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