Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A8
Variant:p.Y441Y

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
1 paper
NM_024628.6
p.Y441Y
c.1323C>T
Surrounding Variants
1 paper
NM_024628.6
p.Q448R
c.1343A>G
1 paper
NM_024628.6
p.R449R
c.1345A>C
1 paper
NM_024628.6
p.E417K
c.1249G>A
1 paper
NM_024628.6
p.L412P
c.1235T>C
1 paper
NM_024628.6
p.L412delFs
c.1234delG
2 papers
NM_024628.6
p.C410Y
c.1229G>A
1 paper
NM_024628.6
p.R478W
c.1432A>T
3 papers
NM_024628.6
p.R478S
c.1434G>T
3 papers
NM_024628.6
p.R478S
c.1434G>C
1 paper
NM_024628.6
p.M392I
c.1176G>T
1 paper
NM_024628.6
p.M392I
c.1176G>C
1 paper
NM_024628.6
p.M392I
c.1176G>A
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