Varaico: Literature-Extracted Genetic Variants

Gene:SLC29A3
Variant:p.L445P

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.L445P
c.1334T>C
Surrounding Variants
22 papers
NM_018344.6
p.E444*
c.1330G>T
5 papers
NM_018344.6
p.E447K
c.1339G>A
1 paper
NM_018344.6
p.E447A
c.1340A>C
1 paper
NM_018344.6
p.R443M
c.1328G>T
31 papers
NM_018344.6
p.T449R
c.1346C>G
1 paper
NM_018344.6
p.G450_V452delFs
c.1350_1354del5
1 paper
NM_018344.6
p.G450R
c.1348G>A
1 paper
NM_018344.6
p.V451fs
c.1351_1352fs
1 paper
NM_018344.6
p.M453delFs
c.1357delA
1 paper
NM_018344.6
p.M453fs
c.1357_1358fs
53 papers
NM_018344.6
p.G437R
c.1309G>A
48 papers
NM_018344.6
p.G437R
c.1309G>C
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