Varaico: Literature-Extracted Genetic Variants

Gene:SLC29A1

SLC29A1

151 papers

RefSeq Summary

This gene is a member of the equilibrative nucleoside transporter family. The gene encodes a transmembrane glycoprotein that localizes to the plasma and mitochondrial membranes and mediates the cellul...

Pfam Domains

Nucleoside_tranaa 144–454UCSCNucleoside transporter

Gene Aliases

HGNC Name

solute carrier family 29 member 1

HGNC Previous Symbol

ENT1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 259 variants
14 papers
NM_001372327.1
p.I216T
c.647T>C
14 papers
NM_001372327.1
p.E391K
c.1171G>A
5 papers
NM_001372327.1
p.R10Splc
c.30-549T>C
5 papers
NM_001372327.1
p.A67A
c.201A>G
4 papers
NM_001372327.1
p.G154S
c.460G>A
4 papers
NM_001372327.1
p.S197Splc
c.589+1G>C
4 papers
NM_001372327.1
p.T387P
c.1159A>C
4 papers
NM_001372327.1
p.K420Splc
c.1260-201A>G
3 papers
NM_001372327.1
p.R10Splc
c.29+913C>T
3 papers
NM_001372327.1
p.M33I
c.99G>A
3 papers
NM_001372327.1
p.M33I
c.99G>C
3 papers
NM_001372327.1
p.M33I
c.99G>T
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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."