Varaico: Literature-Extracted Genetic Variants

Gene:SLC29A4
Variant:p.E206D

SLC29A4

69 papers

RefSeq Summary

This gene encodes a member of the SLC29A/ENT transporter protein family. The encoded membrane protein catalyzes the reuptake of monoamines into presynaptic neurons, thus determining the intensity and ...

Pfam Domains

Nucleoside_tranaa 170–506UCSCNucleoside transporter

Gene Aliases

HGNC Name

solute carrier family 29 member 4

HGNC Alias Symbols

FLJ34923; ENT4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_153247.4
p.E206D
c.618G>C
Surrounding Variants
1 paper
NM_153247.4
p.E206D
c.618G>T
1 paper
NM_153247.4
p.E206A
c.617A>C
2 papers
NM_153247.4
p.E206Q
c.616G>C
1 paper
NM_153247.4
p.T199M
c.596C>T
1 paper
NM_153247.4
p.P195H
c.584C>A
1 paper
NM_153247.4
p.I218T
c.653T>C
1 paper
NM_153247.4
p.T220A
c.658A>G
1 paper
NM_153247.4
p.T220S
c.658A>T
1 paper
NM_153247.4
p.E227A
c.680A>C
1 paper
NM_153247.4
p.R228G
c.682C>G
2 papers
NM_153247.4
p.L232V
c.694C>G
1 paper
NM_153247.4
p.F234I
c.700T>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."