Varaico: Literature-Extracted Genetic Variants

Gene:SLC29A3
Variant:p.M147I

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.M147I
c.441G>C
Surrounding Variants
1 paper
NM_018344.6
p.M147I
c.441G>A
1 paper
NM_018344.6
p.M147I
c.441G>T
1 paper
NM_018344.6
p.V148fs
c.442_443fs
1 paper
NM_018344.6
p.V148delFs
c.443delT
1 paper
NM_018344.6
p.K154K
c.462G>A
3 papers
NM_018344.6
p.T140M
c.419C>T
1 paper
NM_018344.6
p.V155M
c.463G>A
4 papers
NM_018344.6
p.L139P
c.416T>C
19 papers
NM_018344.6
p.S158F
c.473C>T
4 papers
NM_018344.6
p.W160*
c.479G>A
3 papers
NM_018344.6
p.W160*
c.480G>A
1 paper
NM_018344.6
p.W160_T161delins
c.480_481delinsCA
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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."