Varaico: Literature-Extracted Genetic Variants

Gene:SLC29A3
Variant:p.G423_L424Fs

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
6 papers
NM_018344.6
p.G423_L424Fs
c.1269_1270delinsAFs
Surrounding Variants
1 paper
NM_018344.6
p.G423_L424Fs
c.1269_1270delinsTFs
3 papers
NM_018344.6
p.L424fs
c.1270_1271fs
1 paper
NM_018344.6
p.S420_L421del1
c.1260_1262delCCT
31 papers
NM_018344.6
p.G427S
c.1279G>A
2 papers
NM_018344.6
p.Y428*
c.1284C>A
2 papers
NM_018344.6
p.Y428*
c.1284C>G
1 paper
NM_018344.6
p.L432delFs
c.1294delC
1 paper
NM_018344.6
p.L432fs
c.1294_1295fs
1 paper
NM_018344.6
p.L432delFs
c.1295delT
1 paper
NM_018344.6
p.L435L
c.1305C>A
53 papers
NM_018344.6
p.G437R
c.1309G>A
48 papers
NM_018344.6
p.G437R
c.1309G>C
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