Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A4
Variant:p.G501*

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.G501*
c.1501G>T
Surrounding Variants
4 papers
NM_003059.3
p.I500N
c.1499T>A
97 papers
NM_003059.3
p.L503F
c.1507C>T
1 paper
NM_003059.3
p.T504I
c.1511C>T
1 paper
NM_003059.3
p.F507fs
c.1519_1520fs
1 paper
NM_003059.3
p.F507S
c.1520T>C
1 paper
NM_003059.3
p.V492I
c.1474G>A
1 paper
NM_003059.3
p.G512R
c.1534G>A
1 paper
NM_003059.3
p.G512R
c.1534G>C
1 paper
NM_003059.3
p.P489L
c.1466C>T
1 paper
NM_003059.3
p.M513T
c.1538T>C
3 papers
NM_003059.3
p.M487T
c.1460T>C
1 paper
NM_003059.3
p.M487L
c.1459A>C
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."