Varaico: Literature-Extracted Genetic Variants

Gene:SLC29A1
Variant:p.C416S

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
1 paper
NM_001372327.1
p.C416S
c.1246T>A
Surrounding Variants
1 paper
NM_001372327.1
p.C416Y
c.1247G>A
1 paper
NM_001372327.1
p.C416S
c.1247G>C
2 papers
NM_001372327.1
p.C414S
c.1241G>C
2 papers
NM_001372327.1
p.C414S
c.1240T>A
2 papers
NM_001372327.1
p.S412S
c.1236C>T
1 paper
NM_001372327.1
p.A401G
c.1202C>G
1 paper
NM_001372327.1
p.F399S
c.1196T>C
1 paper
NM_001372327.1
p.I397V
c.1189A>G
1 paper
NM_001372327.1
p.W395G
c.1183T>G
1 paper
NM_001372327.1
p.A394A
c.1182C>G
14 papers
NM_001372327.1
p.E391K
c.1171G>A
1 paper
NM_001372327.1
p.E391*
c.1171G>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."