Varaico: Literature-Extracted Genetic Variants

Gene:SLC29A4
Variant:p.Q41H

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.Q41H
c.123G>T
Surrounding Variants
1 paper
NM_153247.4
p.Q41H
c.123G>C
1 paper
NM_153247.4
p.A36V
c.107C>T
1 paper
NM_153247.4
p.A52A
c.156T>C
3 papers
NM_153247.4
p.D29G
c.86A>G
1 paper
NM_153247.4
p.D29N
c.85G>A
1 paper
NM_153247.4
p.T54T
c.162G>T
1 paper
NM_153247.4
p.S25G
c.73A>G
1 paper
NM_153247.4
p.M24L
c.70A>C
1 paper
NM_153247.4
p.M24L
c.70A>T
1 paper
NM_153247.4
p.V23delFs
c.67delG
1 paper
NM_153247.4
p.A15A
c.45A>T
1 paper
NM_153247.4
p.S13I
c.38G>T
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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."