Varaico: Literature-Extracted Genetic Variants

Gene:KCNK12
Variant:p.S246A

KCNK12

39 papers

RefSeq Summary

This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, how...

Pfam Domains

Ion_trans_2aa 94–170UCSCIon channel
Ion_trans_2aa 216–304UCSCIon channel

Gene Aliases

HGNC Name

potassium two pore domain channel subfamily K member 12

HGNC Alias Symbols

THIK-2; THIK2; K2p12.1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_022055.2
p.S246A
c.736T>G
Surrounding Variants
1 paper
NM_022055.2
p.C229fs
c.685_686fs
1 paper
NM_022055.2
p.Q266Q
c.798G>A
1 paper
NM_022055.2
p.Y214N
c.640T>A
1 paper
NM_022055.2
p.V288L
c.862G>T
1 paper
NM_022055.2
p.V288L
c.862G>C
1 paper
NM_022055.2
p.I291I
c.873T>C
1 paper
NM_022055.2
p.L200F
c.598C>T
3 papers
NM_022055.2
p.Y292S
c.875A>C
1 paper
NM_022055.2
p.A178T
c.532G>A
1 paper
NM_022055.2
p.R177L
c.530G>T
1 paper
NM_022055.2
p.A319T
c.955G>A
1 paper
NM_022055.2
p.A324T
c.970G>A
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