Varaico: Literature-Extracted Genetic Variants

Gene:SLC29A1
Variant:p.R10Splc

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
Selected Variant
5 papers
NM_001372327.1
p.R10Splc
c.30-549T>C
Surrounding Variants
1 paper
NM_001372327.1
p.R10R
c.30A>G
1 paper
NM_001372327.1
p.K12Q
c.34A>C
1 paper
NM_001372327.1
p.A13T
c.37G>A
1 paper
NM_001372327.1
p.V14L
c.40G>C
1 paper
NM_001372327.1
p.W15*
c.44G>A
1 paper
NM_001372327.1
p.L16V
c.46C>G
1 paper
NM_001372327.1
p.F19C
c.56T>G
1 paper
NM_001372327.1
p.L21L
c.61C>T
1 paper
NM_001372327.1
p.L23del1
c.67_68delCTG
3 papers
NM_001372327.1
p.R10Splc
c.29+913C>T
2 papers
NM_001372327.1
p.G24R
c.70G>A
2 papers
NM_001372327.1
p.G24R
c.70G>C
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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."