Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A4
Variant:p.K434*

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.K434*
c.1300A>T
Surrounding Variants
1 paper
NM_003059.3
p.K434T
c.1301A>C
1 paper
NM_003059.3
p.I427T
c.1280T>C
1 paper
NM_003059.3
p.S442_M443del2
c.1324_1328del6
2 papers
NM_003059.3
p.V446F
c.1336G>T
2 papers
NM_003059.3
p.D421_Y422del1
c.1262_1264delATT
2 papers
NM_003059.3
p.A460V
c.1379C>T
8 papers
NM_003059.3
p.G462E
c.1385G>A
1 paper
NM_003059.3
p.G462V
c.1385G>T
1 paper
NM_003059.3
p.D421Splc
c.1262-51G>A
1 paper
NM_003059.3
p.D421Splc
c.1262-53A>C
1 paper
NM_003059.3
p.G471D
c.1412G>A
4 papers
NM_003059.3
p.G471G
c.1413C>G
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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."