Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A8
Variant:p.D569V

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
2 papers
NM_024628.6
p.D569V
c.1706A>T
Surrounding Variants
1 paper
NM_024628.6
p.D569Splc
c.1706-272C>T
2 papers
NM_024628.6
p.A602V
c.1805C>T
1 paper
NM_024628.6
p.R633Q
c.1898G>A
3 papers
NM_024628.6
p.R664Q
c.1991G>A
1 paper
NM_024628.6
p.A673V
c.2018C>T
1 paper
NM_024628.6
p.D680A
c.2039A>C
1 paper
NM_024628.6
p.N690S
c.2069A>G
1 paper
NM_024628.6
p.R698C
c.2092C>T
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