Varaico: Literature-Extracted Genetic Variants

Gene:SLC29A1
Variant:p.K420Splc

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.K420Splc
c.1260-201A>G
Surrounding Variants
1 paper
NM_001372327.1
p.K420Splc
c.1260-201A>C
1 paper
NM_001372327.1
p.K420_K421del1
c.1260_1262delGAA
1 paper
NM_001372327.1
p.K421E
c.1261A>G
1 paper
NM_001372327.1
p.A427G
c.1280C>G
1 paper
NM_001372327.1
p.C416Y
c.1247G>A
1 paper
NM_001372327.1
p.C416S
c.1247G>C
1 paper
NM_001372327.1
p.C416S
c.1246T>A
1 paper
NM_001372327.1
p.T429I
c.1286C>T
2 papers
NM_001372327.1
p.C414S
c.1241G>C
3 papers
NM_001372327.1
p.A430T
c.1288G>A
2 papers
NM_001372327.1
p.C414S
c.1240T>A
2 papers
NM_001372327.1
p.S412S
c.1236C>T
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