Varaico: Literature-Extracted Genetic Variants

Gene:SLC29A3
Variant:p.R386W

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
4 papers
NM_018344.6
p.R386W
c.1156C>T
Surrounding Variants
2 papers
NM_018344.6
p.L385_R386delins
c.1155_1156delinsGT
23 papers
NM_018344.6
p.R386Q
c.1157G>A
1 paper
NM_018344.6
p.F382_V383del2
c.1144_1148del6
2 papers
NM_018344.6
p.P391H
c.1172C>A
1 paper
NM_018344.6
p.P391P
c.1173C>A
1 paper
NM_018344.6
p.V394M
c.1180G>A
1 paper
NM_018344.6
p.P400H
c.1199C>A
2 papers
NM_018344.6
p.R401H
c.1202G>A
1 paper
NM_018344.6
p.Q370H
c.1110G>T
1 paper
NM_018344.6
p.H403D
c.1207C>G
1 paper
NM_018344.6
p.H403P
c.1208A>C
1 paper
NM_018344.6
p.H403R
c.1208A>G
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