Varaico: Literature-Extracted Genetic Variants

Gene:SLC29A3
Variant:p.L349delFs

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
16 papers
NM_018344.6
p.L349delFs
c.1045delC
Surrounding Variants
1 paper
NM_018344.6
p.F346L
c.1036T>C
3 papers
NM_018344.6
p.L349fs
c.1045_1046fs
6 papers
NM_018344.6
p.L349fs
c.1045_1046fs
1 paper
NM_018344.6
p.L354V
c.1060C>G
3 papers
NM_018344.6
p.G336G
c.1008T>C
1 paper
NM_018344.6
p.G336S
c.1006G>A
1 paper
NM_018344.6
p.D359fs
c.1075_1076fs
1 paper
NM_018344.6
p.D359_G362delFs
c.1077_1084del8
4 papers
NM_018344.6
p.N334S
c.1001A>G
1 paper
NM_018344.6
p.N334H
c.1000A>C
1 paper
NM_018344.6
p.G362C
c.1084G>T
23 papers
NM_018344.6
p.R363W
c.1087C>T
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