Varaico: Literature-Extracted Genetic Variants

Gene:SLC46A1
Variant:p.S308C

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
2 papers
NM_080669.6
p.S308C
c.923C>G
Surrounding Variants
1 paper
NM_080669.6
p.G307A
c.920G>C
2 papers
NM_080669.6
p.G307C
c.919G>T
1 paper
NM_080669.6
p.Y306*
c.918T>G
1 paper
NM_080669.6
p.Y306*
c.918T>A
1 paper
NM_080669.6
p.A310T
c.928G>A
2 papers
NM_080669.6
p.Y306C
c.917A>G
2 papers
NM_080669.6
p.G305A
c.914G>C
2 papers
NM_080669.6
p.G305C
c.913G>T
1 paper
NM_080669.6
p.G305S
c.913G>A
1 paper
NM_080669.6
p.I304S
c.911T>G
2 papers
NM_080669.6
p.I304F
c.910A>T
1 paper
NM_080669.6
p.P314A
c.940C>G
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