Varaico: Literature-Extracted Genetic Variants

Gene:KCNK4
Variant:p.V282M

KCNK4

74 papers

RefSeq Summary

This gene encodes a member of the TWIK-related arachidonic acid-stimulated two pore potassium channel subfamily. The encoded protein homodimerizes and functions as an outwardly rectifying channel. Thi...

Pfam Domains

Ion_trans_2aa 72–144UCSCIon channel
Ion_trans_2aa 173–259UCSCIon channel

Gene Aliases

HGNC Name

potassium two pore domain channel subfamily K member 4

HGNC Alias Symbols

K2p4.1; TRAAK

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_033310.3
p.V282M
c.844G>A
Surrounding Variants
1 paper
NM_033310.3
p.T281T
c.843G>A
1 paper
NM_033310.3
p.T281insFs
c.842_843insA
1 paper
NM_033310.3
p.T281fs
c.841_842fs
1 paper
NM_033310.3
p.A284E
c.851C>A
1 paper
NM_033310.3
p.R285H
c.854G>A
1 paper
NM_033310.3
p.W278R
c.832T>A
1 paper
NM_033310.3
p.W278R
c.832T>C
1 paper
NM_033310.3
p.R289Q
c.866G>A
1 paper
NM_033310.3
p.R289L
c.866G>T
1 paper
NM_033310.3
p.A290T
c.868G>A
1 paper
NM_033310.3
p.A290D
c.869C>A
1 paper
NM_033310.3
p.A273T
c.817G>A
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