Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A8
Variant:p.I281V

SLC12A8

71 papers

RefSeq Summary

This gene is thought to be a candidate for psoriasis susceptibility. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these var...

Pfam Domains

AA_permeaseaa 44–416UCSCAmino acid permease

Gene Aliases

HGNC Name

solute carrier family 12 member 8

HGNC Alias Symbol

CCC9

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_024628.6
p.I281V
c.841A>G
Surrounding Variants
1 paper
NM_024628.6
p.I281L
c.841A>C
1 paper
NM_024628.6
p.R292Q
c.875G>A
1 paper
NM_024628.6
p.A249V
c.746C>T
1 paper
NM_024628.6
p.M308I
c.924G>T
1 paper
NM_024628.6
p.M308I
c.924G>C
1 paper
NM_024628.6
p.M308I
c.924G>A
1 paper
NM_024628.6
p.Y317*
c.951C>G
1 paper
NM_024628.6
p.Y317*
c.951C>A
1 paper
NM_024628.6
p.G326E
c.977G>A
1 paper
NM_024628.6
p.P345P
c.1035T>C
1 paper
NM_024628.6
p.C349Y
c.1046G>A
1 paper
NM_024628.6
p.G353_K354Splc
c.1059+1G>T
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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."