Varaico: Literature-Extracted Genetic Variants

Gene:SLC29A3
Variant:p.E255D

SLC29A3

243 papers

RefSeq Summary

This gene encodes a nucleoside transporter. The encoded protein plays a role in cellular uptake of nucleosides, nucleobases, and their related analogs. Mutations in this gene have been associated with...

Pfam Domains

Nucleoside_tranaa 169–473UCSCNucleoside transporter

Gene Aliases

HGNC Name

solute carrier family 29 member 3

HGNC Alias Symbols

ENT3; FLJ11160; hENT3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018344.6
p.E255D
c.765G>C
Surrounding Variants
1 paper
NM_018344.6
p.A257V
c.770C>T
1 paper
NM_018344.6
p.C244*
c.732C>A
21 papers
NM_018344.6
p.V239I
c.715G>A
NM_001363518.2
p.V161I
c.481G>A
2 papers
NM_018344.6
p.T238T
c.714T>C
3 papers
NM_001363518.2
p.T160_V161delins
c.480_481delinsCA
NM_018344.6
p.T238_V239delins
c.714_715delinsCA
3 papers
NM_018344.6
p.T236M
c.707C>T
1 paper
NM_018344.6
p.A230T
c.688G>A
1 paper
NM_018344.6
p.D219A
c.656A>C
4 papers
NM_018344.6
p.V214M
c.640G>A
4 papers
NM_018344.6
p.G209R
c.625G>A
1 paper
NM_018344.6
p.G209R
c.625G>C
4 papers
NM_018344.6
p.G208R
c.622G>C
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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."