Varaico: Literature-Extracted Genetic Variants

Gene:SLC29A3
Variant:p.S465*

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.S465*
c.1394C>G
Surrounding Variants
1 paper
NM_018344.6
p.S465*
c.1394C>A
2 papers
NM_018344.6
p.A466G
c.1397C>G
1 paper
NM_018344.6
p.H473D
c.1417C>G
1 paper
NM_018344.6
p.H473P
c.1418A>C
1 paper
NM_018344.6
p.H473R
c.1418A>G
1 paper
NM_018344.6
p.*476W
c.1427A>G
1 paper
NM_018344.6
p.M453fs
c.1357_1358fs
1 paper
NM_018344.6
p.M453delFs
c.1357delA
1 paper
NM_018344.6
p.V451fs
c.1351_1352fs
1 paper
NM_018344.6
p.G450R
c.1348G>A
1 paper
NM_018344.6
p.G450_V452delFs
c.1350_1354del5
31 papers
NM_018344.6
p.T449R
c.1346C>G
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