Varaico: Literature-Extracted Genetic Variants

Gene:SLC29A3
Variant:p.G437R

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
48 papers
NM_018344.6
p.G437R
c.1309G>C
Surrounding Variants
53 papers
NM_018344.6
p.G437R
c.1309G>A
1 paper
NM_018344.6
p.L435L
c.1305C>A
1 paper
NM_018344.6
p.L432fs
c.1294_1295fs
1 paper
NM_018344.6
p.L432delFs
c.1295delT
1 paper
NM_018344.6
p.L432delFs
c.1294delC
1 paper
NM_018344.6
p.R443M
c.1328G>T
22 papers
NM_018344.6
p.E444*
c.1330G>T
2 papers
NM_018344.6
p.Y428*
c.1284C>A
2 papers
NM_018344.6
p.Y428*
c.1284C>G
1 paper
NM_018344.6
p.L445P
c.1334T>C
31 papers
NM_018344.6
p.G427S
c.1279G>A
5 papers
NM_018344.6
p.E447K
c.1339G>A
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