Varaico: Literature-Extracted Genetic Variants

Gene:SLC29A1
Variant:p.S197Splc

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
4 papers
NM_001372327.1
p.S197Splc
c.589+1G>C
Surrounding Variants
1 paper
NM_001372327.1
p.I195T
c.584T>C
2 papers
NM_001372327.1
p.A194T
c.580G>A
2 papers
NM_001372327.1
p.C193S
c.578G>C
2 papers
NM_001372327.1
p.C193S
c.577T>A
1 paper
NM_001372327.1
p.I192M
c.576C>G
1 paper
NM_001372327.1
p.A190T
c.568G>A
1 paper
NM_001372327.1
p.S188S
c.564C>T
1 paper
NM_001372327.1
p.G184A
c.551G>C
1 paper
NM_001372327.1
p.G184V
c.551G>T
2 papers
NM_001372327.1
p.G184S
c.550G>A
2 papers
NM_001372327.1
p.G184C
c.550G>T
1 paper
NM_001372327.1
p.L182V
c.544C>G
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