Varaico: Literature-Extracted Genetic Variants

Gene:SLC29A3
Variant:p.S23_L24delFs

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
2 papers
NM_018344.6
p.S23_L24delFs
c.67_70del4
Surrounding Variants
1 paper
NM_018344.6
p.S21fs
c.61_62fs
2 papers
NM_018344.6
p.S21fs
c.61_62fs
2 papers
NM_018344.6
p.L24fs
c.70_71fs
7 papers
NM_018344.6
p.R25*
c.73C>T
3 papers
NM_018344.6
p.T20insFs
c.59_60dupCA
2 papers
NM_018344.6
p.R25Q
c.74G>A
1 paper
NM_018344.6
p.A26T
c.76G>A
8 papers
NM_018344.6
p.R18G
c.52A>G
1 paper
NM_018344.6
p.Y17insFs
c.51dupC
1 paper
NM_018344.6
p.Y17fs
c.49_50fs
1 paper
NM_018344.6
p.T16fs
c.46_47fs
1 paper
NM_018344.6
p.S15P
c.43T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."