Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A4
Variant:p.W132*

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
2 papers
NM_003059.3
p.W132*
c.396G>A
Surrounding Variants
2 papers
NM_003059.3
p.W132*
c.395G>A
2 papers
NM_003059.3
p.L134M
c.400C>A
1 paper
NM_003059.3
p.N139Y
c.415A>T
1 paper
NM_003059.3
p.N139S
c.416A>G
2 papers
NM_003059.3
p.K141delFs
c.421_422delAA
1 paper
NM_003059.3
p.P143L
c.428C>T
1 paper
NM_003059.3
p.L148delFs
c.442_443delCT
1 paper
NM_003059.3
p.L148V
c.442C>G
1 paper
NM_003059.3
p.L148fs
c.442_443fs
1 paper
NM_003059.3
p.F150F
c.450C>T
2 papers
NM_003059.3
p.G152R
c.454G>C
1 paper
NM_003059.3
p.L155I
c.463C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."