Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A5
Variant:p.E131*

SLC22A5

602 papers

RefSeq Summary

Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and en...

Pfam Domains

Sugar_traa 113–524UCSCSugar (and other) transporter

Gene Aliases

HGNC Name

solute carrier family 22 member 5

HGNC Previous Symbol

CDSP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003060.4
p.E131*
c.391G>T
Surrounding Variants
3 papers
NM_003060.4
p.E131K
c.391G>A
1 paper
NM_003060.4
p.E131E
c.393G>A
3 papers
NM_003060.4
p.E131D
c.393G>C
3 papers
NM_003060.4
p.E131D
c.393G>T
4 papers
NM_003060.4
p.T130A
c.388A>G
1 paper
NM_003060.4
p.T130fs
c.388_389fs
1 paper
NM_003060.4
p.E131_W132Splc
c.393+1G>A
1 paper
NM_003060.4
p.V129insFs
c.385_386insT
2 papers
NM_003060.4
p.V129fs
c.385_386fs
5 papers
NM_003060.4
p.E131_W132Splc
c.393+5G>A
1 paper
NM_003060.4
p.I128M
c.384T>G
2 papers
NM_003060.4
p.I128insFs
c.384dupT
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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."