Varaico: Literature-Extracted Genetic Variants

Gene:SLC29A3
Variant:p.D8A

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.D8A
c.23A>C
Surrounding Variants
1 paper
NM_018344.6
p.F9I
c.25T>A
1 paper
NM_018344.6
p.E6fs
c.16_17fs
1 paper
NM_018344.6
p.S5insFs
c.15dupA
1 paper
NM_018344.6
p.V3G
c.8T>G
1 paper
NM_018344.6
p.V3I
c.7G>A
6 papers
NM_018344.6
p.N14delFs
c.42delC
1 paper
NM_018344.6
p.M1I
c.3G>T
1 paper
NM_018344.6
p.S15P
c.43T>C
3 papers
NM_018344.6
p.S15delFs
c.45delC
6 papers
NM_018344.6
p.S15fs
c.43_44fs
2 papers
NM_018344.6
p.M1K
c.2T>A
2 papers
NM_018344.6
p.M1R
c.2T>G
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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."