Varaico: Literature-Extracted Genetic Variants

Gene:KCNK6
Variant:p.L7P

KCNK6

34 papers

RefSeq Summary

This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. This channel protein, considered an open rectifier, is widely expressed. It...

Pfam Domains

Ion_trans_2aa 67–146UCSCIon channel
Ion_trans_2aa 169–260UCSCIon channel

Gene Aliases

HGNC Name

potassium two pore domain channel subfamily K member 6

HGNC Alias Symbols

K2p6.1; TWIK-2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004823.3
p.L7P
c.20T>C
Surrounding Variants
1 paper
NM_004823.3
p.A5T
c.13G>A
1 paper
NM_004823.3
p.A12T
c.34G>A
3 papers
NM_004823.3
p.R37Q
c.110G>A
1 paper
NM_004823.3
p.P52A
c.154C>G
1 paper
NM_004823.3
p.A58V
c.173C>T
2 papers
NM_004823.3
p.T106A
c.316A>G
1 paper
NM_004823.3
p.Y111N
c.331T>A
3 papers
NM_004823.3
p.Y111H
c.331T>C
1 paper
NM_004823.3
p.A118A
c.354G>T
1 paper
NM_004823.3
p.S123F
c.368C>T
1 paper
NM_004823.3
p.I124N
c.371T>A
1 paper
NM_004823.3
p.P132L
c.395C>T
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