Varaico: Literature-Extracted Genetic Variants

Gene:SLC46A1
Variant:p.Y327D

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
1 paper
NM_080669.6
p.Y327D
c.979T>G
Surrounding Variants
2 papers
NM_080669.6
p.C328S
c.982T>A
2 papers
NM_080669.6
p.C328S
c.983G>C
1 paper
NM_080669.6
p.L324L
c.972C>T
1 paper
NM_080669.6
p.D331N
c.991G>A
2 papers
NM_080669.6
p.D331A
c.992A>C
1 paper
NM_080669.6
p.D331E
c.993T>G
1 paper
NM_080669.6
p.D331E
c.993T>A
1 paper
NM_080669.6
p.W333R
c.997T>C
1 paper
NM_080669.6
p.W333R
c.997T>A
1 paper
NM_080669.6
p.W333C
c.999G>T
1 paper
NM_080669.6
p.W333C
c.999G>C
1 paper
NM_080669.6
p.A335P
c.1003G>C
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