Varaico: Literature-Extracted Genetic Variants

Gene:KCNK6
Variant:p.I124N

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.I124N
c.371T>A
Surrounding Variants
1 paper
NM_004823.3
p.S123F
c.368C>T
1 paper
NM_004823.3
p.A118A
c.354G>T
1 paper
NM_004823.3
p.P132L
c.395C>T
1 paper
NM_004823.3
p.Y111N
c.331T>A
3 papers
NM_004823.3
p.Y111H
c.331T>C
2 papers
NM_004823.3
p.T150I
c.449C>T
1 paper
NM_004823.3
p.D164H
c.490G>C
1 paper
NM_004823.3
p.V183F
c.547G>T
1 paper
NM_004823.3
p.P188delFs
c.563delC
1 paper
NM_004823.3
p.P188fs
c.562_563fs
1 paper
NM_004823.3
p.A189T
c.565G>A
1 paper
NM_004823.3
p.A198T
c.592G>A
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