Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A5
Variant:p.E76*

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.E76*
c.226G>T
Surrounding Variants
7 papers
NM_003060.4
p.R75P
c.224G>C
1 paper
NM_003060.4
p.R75delFs
c.225delC
1 paper
NM_003060.4
p.R75S
c.223C>A
1 paper
NM_003060.4
p.R75fs
c.223_224fs
1 paper
NM_003060.4
p.R75delFs
c.223_224delCG
1 paper
NM_003060.4
p.V77_P78delFs
c.231_234del4
10 papers
NM_003060.4
p.P78delFs
c.234delC
1 paper
NM_003060.4
p.P78S
c.232C>T
1 paper
NM_003060.4
p.G74R
c.220G>C
1 paper
NM_003060.4
p.H79_N91del13
c.235_272del39
2 papers
NM_003060.4
p.P78P
c.234C>G
2 papers
NM_003060.4
p.H79_S80delFs
c.235_238del4
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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."