Varaico: Literature-Extracted Genetic Variants

Gene:SLC29A1
Variant:p.A435T

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.A435T
c.1303G>A
Surrounding Variants
1 paper
NM_001372327.1
p.C439S
c.1315T>A
1 paper
NM_001372327.1
p.C439S
c.1316G>C
3 papers
NM_001372327.1
p.A430T
c.1288G>A
1 paper
NM_001372327.1
p.T429I
c.1286C>T
1 paper
NM_001372327.1
p.A427G
c.1280C>G
1 paper
NM_001372327.1
p.L444L
c.1330C>T
1 paper
NM_001372327.1
p.G445A
c.1334G>C
1 paper
NM_001372327.1
p.A446V
c.1337C>T
1 paper
NM_001372327.1
p.V447I
c.1339G>A
1 paper
NM_001372327.1
p.K421E
c.1261A>G
1 paper
NM_001372327.1
p.K420_K421del1
c.1260_1262delGAA
1 paper
NM_001372327.1
p.F452S
c.1355T>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."