Varaico: Literature-Extracted Genetic Variants

Gene:SLC29A3
Variant:p.Q370H

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.Q370H
c.1110G>T
Surrounding Variants
3 papers
NM_018344.6
p.A367T
c.1099G>A
25 papers
NM_018344.6
p.R363Q
c.1088G>A
23 papers
NM_018344.6
p.R363W
c.1087C>T
1 paper
NM_018344.6
p.G362C
c.1084G>T
1 paper
NM_018344.6
p.F382_V383del2
c.1144_1148del6
1 paper
NM_018344.6
p.D359_G362delFs
c.1077_1084del8
1 paper
NM_018344.6
p.D359fs
c.1075_1076fs
2 papers
NM_018344.6
p.L385_R386delins
c.1155_1156delinsGT
4 papers
NM_018344.6
p.R386W
c.1156C>T
23 papers
NM_018344.6
p.R386Q
c.1157G>A
1 paper
NM_018344.6
p.L354V
c.1060C>G
2 papers
NM_018344.6
p.P391H
c.1172C>A
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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."