Varaico: Literature-Extracted Genetic Variants

Gene:SLC29A3
Variant:p.R18G

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
8 papers
NM_018344.6
p.R18G
c.52A>G
Surrounding Variants
1 paper
NM_018344.6
p.Y17insFs
c.51dupC
1 paper
NM_018344.6
p.Y17fs
c.49_50fs
3 papers
NM_018344.6
p.T20insFs
c.59_60dupCA
1 paper
NM_018344.6
p.T16fs
c.46_47fs
1 paper
NM_018344.6
p.S21fs
c.61_62fs
2 papers
NM_018344.6
p.S21fs
c.61_62fs
1 paper
NM_018344.6
p.S15P
c.43T>C
3 papers
NM_018344.6
p.S15delFs
c.45delC
6 papers
NM_018344.6
p.S15fs
c.43_44fs
6 papers
NM_018344.6
p.N14delFs
c.42delC
2 papers
NM_018344.6
p.S23_L24delFs
c.67_70del4
2 papers
NM_018344.6
p.L24fs
c.70_71fs
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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."