Varaico: Literature-Extracted Genetic Variants

Gene:SLC29A1
Variant:p.C222S

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.C222S
c.665G>C
Surrounding Variants
1 paper
NM_001372327.1
p.C222Y
c.665G>A
1 paper
NM_001372327.1
p.C222S
c.664T>A
1 paper
NM_001372327.1
p.G225V
c.674G>T
1 paper
NM_001372327.1
p.P227L
c.680C>T
14 papers
NM_001372327.1
p.I216T
c.647T>C
1 paper
NM_001372327.1
p.V215I
c.643G>A
2 papers
NM_001372327.1
p.A214G
c.641C>G
3 papers
NM_001372327.1
p.C213S
c.638G>C
2 papers
NM_001372327.1
p.C213S
c.637T>A
1 paper
NM_001372327.1
p.Y208C
c.623A>G
1 paper
NM_001372327.1
p.Y208H
c.622T>C
1 paper
NM_001372327.1
p.G207A
c.620G>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."