Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A8

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
1–12 of 65 variants
3 papers
NM_024628.6
p.R181C
c.541C>T
3 papers
NM_024628.6
p.I281V
c.841A>G
3 papers
NM_024628.6
p.R478S
c.1434G>T
3 papers
NM_024628.6
p.R478S
c.1434G>C
3 papers
NM_024628.6
p.K541R
c.1622A>G
3 papers
NM_024628.6
p.R664Q
c.1991G>A
2 papers
NM_024628.6
p.C410Y
c.1229G>A
2 papers
NM_024628.6
p.D569V
c.1706A>T
2 papers
NM_024628.6
p.A602V
c.1805C>T
1 paper
NM_024628.6
p.M1insFs
c.2dupT
1 paper
NM_024628.6
p.M4I
c.12G>C
1 paper
NM_024628.6
p.M33L
c.97A>T
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