Varaico: Literature-Extracted Genetic Variants

Gene:KCNK2
Variant:p.R7Q

KCNK2

86 papers

RefSeq Summary

This gene encodes one of the members of the two-pore-domain background potassium channel protein family. This type of potassium channel is formed by two homodimers that create a channel that leaks pot...

Pfam Domains

Ion_trans_2aa 118–197UCSCIon channel
Ion_trans_2aa 235–313UCSCIon channel

Gene Aliases

HGNC Name

potassium two pore domain channel subfamily K member 2

HGNC Alias Symbols

K2p2.1; TREK-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001017425.3
p.R7Q
c.20G>A
Surrounding Variants
1 paper
NM_001017425.3
p.S6insFs
c.16dupT
1 paper
NM_001017425.3
p.P3insFs
c.7_8insC
1 paper
NM_001017425.3
p.V16Splc
c.47-7T>C
1 paper
NM_001017425.3
p.D23Y
c.67G>T
1 paper
NM_001017425.3
p.K25E
c.73A>G
1 paper
NM_001017425.3
p.A28T
c.82G>A
1 paper
NM_001017425.3
p.K32delFs
c.96delA
1 paper
NM_001017425.3
p.P33S
c.97C>T
1 paper
NM_001017425.3
p.R34W
c.100A>T
1 paper
NM_001017425.3
p.K40K
c.120A>G
1 paper
NM_001017425.3
p.P41P
c.123C>A
1 paper
NM_001017425.3
p.T42A
c.124A>G
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