Varaico: Literature-Extracted Genetic Variants

Gene:SLC29A3
Variant:p.T90_E92delFs

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.T90_E92delFs
c.269_275del7
Surrounding Variants
1 paper
NM_018344.6
p.T90fs
c.268_269fs
1 paper
NM_018344.6
p.S85P
c.253T>C
1 paper
NM_018344.6
p.E95A
c.284A>C
1 paper
NM_018344.6
p.R83H
c.248G>A
1 paper
NM_018344.6
p.R83C
c.247C>T
3 papers
NM_018344.6
p.K81fs
c.241_242fs
1 paper
NM_018344.6
p.K81*
c.241A>T
7 papers
NM_018344.6
p.K81fs
c.241_242fs
13 papers
NM_018344.6
p.K81delFs
c.243delA
1 paper
NM_018344.6
p.I99insFs
c.296_297insC
1 paper
NM_018344.6
p.L100L
c.300G>A
18 papers
NM_018344.6
p.L100_N101Splc
c.300+1G>A
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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."