Varaico: Literature-Extracted Genetic Variants

Gene:SLC46A1
Variant:p.E185D

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.E185D
c.555A>T
Surrounding Variants
1 paper
NM_080669.6
p.E185D
c.555A>C
5 papers
NM_080669.6
p.E185A
c.554A>C
1 paper
NM_080669.6
p.E185Q
c.553G>C
1 paper
NM_080669.6
p.E185K
c.553G>A
1 paper
NM_080669.6
p.E185_S187Fs
c.554_559delinsTGTGFs
2 papers
NM_080669.6
p.I188fs
c.562_563fs
1 paper
NM_080669.6
p.I188S
c.563T>G
1 paper
NM_080669.6
p.I188delFs
c.562delT
4 papers
NM_080669.6
p.G189V
c.566G>T
1 paper
NM_080669.6
p.G189A
c.566G>C
1 paper
NM_080669.6
p.G192V
c.575G>T
1 paper
NM_080669.6
p.G192A
c.575G>C
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