Varaico: Literature-Extracted Genetic Variants

Gene:SLC29A3
Variant:p.P41delFs

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.P41delFs
c.122delC
Surrounding Variants
1 paper
NM_018344.6
p.P40fs
c.118_119fs
2 papers
NM_018344.6
p.P41fs
c.121_122fs
1 paper
NM_018344.6
p.P41fs
c.121_122fs
1 paper
NM_018344.6
p.L36fs
c.106_107fs
2 papers
NM_018344.6
p.K34_L36ins1
c.102_107dup6
1 paper
NM_018344.6
p.K34_L35insFs
c.101_104dup4
1 paper
NM_018344.6
p.R45S
c.135G>T
3 papers
NM_018344.6
p.E47*
c.139G>T
1 paper
NM_018344.6
p.A30P
c.88G>C
1 paper
NM_018344.6
p.R49P
c.146G>C
1 paper
NM_018344.6
p.G52D
c.155G>A
1 paper
NM_018344.6
p.A26T
c.76G>A
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