Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A4
Variant:p.R393*

SLC22A4

272 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 111–522UCSCSugar (and other) transporter

Gene Aliases

HGNC Name

solute carrier family 22 member 4

HGNC Previous Symbol

DFNB60

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003059.3
p.R393*
c.1177C>T
Surrounding Variants
6 papers
NM_003059.3
p.T394T
c.1182C>G
1 paper
NM_003059.3
p.L395V
c.1183C>G
1 paper
NM_003059.3
p.L390P
c.1169T>C
2 papers
NM_003059.3
p.R398H
c.1193G>A
1 paper
NM_003059.3
p.W407L
c.1220G>T
1 paper
NM_003059.3
p.G408R
c.1222G>A
1 paper
NM_003059.3
p.L376F
c.1126C>T
1 paper
NM_003059.3
p.H367L
c.1100A>T
1 paper
NM_003059.3
p.D421Splc
c.1261+19T>C
1 paper
NM_003059.3
p.D421Splc
c.1262-53A>C
1 paper
NM_003059.3
p.D421Splc
c.1262-51G>A
2 papers
NM_003059.3
p.D421_Y422del1
c.1262_1264delATT
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