Varaico: Literature-Extracted Genetic Variants

Gene:SLC46A1
Variant:p.Y208fs

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.Y208fs
c.622_623fs
Surrounding Variants
2 papers
NM_080669.6
p.G207insFs
c.620dupG
1 paper
NM_080669.6
p.Y208C
c.623A>G
4 papers
NM_080669.6
p.G207C
c.619G>T
1 paper
NM_080669.6
p.P211S
c.631C>T
1 paper
NM_080669.6
p.R204Q
c.611G>A
1 paper
NM_080669.6
p.W202C
c.606G>T
1 paper
NM_080669.6
p.W202C
c.606G>C
1 paper
NM_080669.6
p.W213*
c.638G>A
3 papers
NM_080669.6
p.W213C
c.639G>T
3 papers
NM_080669.6
p.W213C
c.639G>C
1 paper
NM_080669.6
p.W213*
c.639G>A
1 paper
NM_080669.6
p.L214L
c.640C>T
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