Varaico: Literature-Extracted Genetic Variants

Gene:SLC29A3
Variant:p.M116R

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
23 papers
NM_018344.6
p.M116R
c.347T>G
Surrounding Variants
2 papers
NM_018344.6
p.T112A
c.334A>G
1 paper
NM_018344.6
p.N122S
c.365A>G
3 papers
NM_018344.6
p.V109I
c.325G>A
1 paper
NM_018344.6
p.V126I
c.376G>A
1 paper
NM_018344.6
p.R128delFs
c.382_383delAG
1 paper
NM_018344.6
p.R128W
c.382A>T
2 papers
NM_018344.6
p.F103fs
c.307_308fs
4 papers
NM_018344.6
p.F103fs
c.307_308fs
2 papers
NM_018344.6
p.F103delFs
c.307delT
3 papers
NM_018344.6
p.F103delFs
c.308_309delTT
1 paper
NM_018344.6
p.Y102H
c.304T>C
2 papers
NM_018344.6
p.R128Splc
c.383+8A>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."