Varaico: Literature-Extracted Genetic Variants

Gene:KCNK6
Variant:p.V221L

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
3 papers
NM_004823.3
p.V221L
c.661G>C
Surrounding Variants
3 papers
NM_004823.3
p.V221L
c.661G>T
1 paper
NM_004823.3
p.D219N
c.655G>A
1 paper
NM_004823.3
p.G216S
c.646G>A
2 papers
NM_004823.3
p.T214A
c.640A>G
1 paper
NM_004823.3
p.S213A
c.637T>G
1 paper
NM_004823.3
p.I210L
c.628A>C
3 papers
NM_004823.3
p.V240I
c.718G>A
1 paper
NM_004823.3
p.L202M
c.604T>A
1 paper
NM_004823.3
p.A198T
c.592G>A
1 paper
NM_004823.3
p.A189T
c.565G>A
1 paper
NM_004823.3
p.P188fs
c.562_563fs
1 paper
NM_004823.3
p.P188delFs
c.563delC
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."