Varaico: Literature-Extracted Genetic Variants

Gene:SLC29A3
Variant:p.A267T

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.A267T
c.799G>A
Surrounding Variants
1 paper
NM_018344.6
p.A266A
c.798G>A
1 paper
NM_018344.6
p.H268D
c.802C>G
1 paper
NM_018344.6
p.H268P
c.803A>C
1 paper
NM_018344.6
p.H268R
c.803A>G
1 paper
NM_018344.6
p.V269_E275del7
c.805_824del21
1 paper
NM_018344.6
p.P263L
c.788C>T
1 paper
NM_018344.6
p.Y259*
c.777C>A
1 paper
NM_018344.6
p.Y259*
c.777C>G
2 papers
NM_018344.6
p.L281P
c.842T>C
2 papers
NM_018344.6
p.S293C
c.878C>G
1 paper
NM_018344.6
p.H294P
c.881A>C
2 papers
NM_018344.6
p.H294R
c.881A>G
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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."