Varaico: Literature-Extracted Genetic Variants

Gene:SLC29A3
Variant:p.N69D

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.N69D
c.205A>G
Surrounding Variants
1 paper
NM_018344.6
p.F70delFs
c.210delC
1 paper
NM_018344.6
p.P67insFs
c.201dupA
1 paper
NM_018344.6
p.F71fs
c.211_212fs
2 papers
NM_018344.6
p.P67_F70del4
c.199_209del12
1 paper
NM_018344.6
p.I72I
c.216C>A
1 paper
NM_018344.6
p.L65R
c.194T>G
1 paper
NM_018344.6
p.S64_E76delFs
c.190_226del37
3 papers
NM_018344.6
p.G61V
c.182G>T
1 paper
NM_018344.6
p.Y77F
c.230A>T
13 papers
NM_018344.6
p.K81delFs
c.243delA
3 papers
NM_018344.6
p.K81fs
c.241_242fs
1 paper
NM_018344.6
p.K81*
c.241A>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."