Varaico: Literature-Extracted Genetic Variants

Gene:SLC29A3
Variant:p.P324S

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
2 papers
NM_018344.6
p.P324S
c.970C>T
Surrounding Variants
13 papers
NM_018344.6
p.P324L
c.971C>T
1 paper
NM_018344.6
p.A325delFs
c.974delC
1 paper
NM_018344.6
p.I322fs
c.964_965fs
9 papers
NM_018344.6
p.I326V
c.976A>G
1 paper
NM_018344.6
p.L321delFs
c.963delC
1 paper
NM_018344.6
p.C327G
c.979T>G
1 paper
NM_018344.6
p.T328delFs
c.984delC
1 paper
NM_018344.6
p.N329fs
c.985_986fs
1 paper
NM_018344.6
p.I318N
c.953T>A
1 paper
NM_018344.6
p.F316V
c.946T>G
1 paper
NM_018344.6
p.N334H
c.1000A>C
6 papers
NM_018344.6
p.Y314fs
c.940_941fs
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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."