Varaico: Literature-Extracted Genetic Variants

Gene:KCNK2
Variant:p.H87Q

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.H87Q
c.261T>G
Surrounding Variants
1 paper
NM_001017425.3
p.H87Q
c.261T>A
1 paper
NM_001017425.3
p.H87R
c.260A>G
1 paper
NM_001017425.3
p.E88K
c.262G>A
1 paper
NM_001017425.3
p.I89T
c.266T>C
1 paper
NM_001017425.3
p.Q85K
c.253C>A
2 papers
NM_001017425.3
p.E84A
c.251A>C
1 paper
NM_001017425.3
p.F80Y
c.239T>A
1 paper
NM_001017425.3
p.V96L
c.286G>C
1 paper
NM_001017425.3
p.V96L
c.286G>T
1 paper
NM_001017425.3
p.Y72*
c.216T>A
1 paper
NM_001017425.3
p.L73delFs
c.217_218delCT
1 paper
NM_001017425.3
p.V70I
c.208G>A
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