Varaico: Literature-Extracted Genetic Variants

Gene:KCNK4
Variant:p.V235L

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.V235L
c.703G>C
Surrounding Variants
1 paper
NM_033310.3
p.V235L
c.703G>T
4 papers
NM_033310.3
p.P233L
c.698C>T
1 paper
NM_033310.3
p.P233T
c.697C>A
1 paper
NM_033310.3
p.Y231C
c.692A>G
1 paper
NM_033310.3
p.P229R
c.686C>G
1 paper
NM_033310.3
p.P229L
c.686C>T
1 paper
NM_033310.3
p.S228Y
c.683C>A
2 papers
NM_033310.3
p.G242S
c.724G>A
1 paper
NM_033310.3
p.A244T
c.730G>A
7 papers
NM_033310.3
p.A244P
c.730G>C
1 paper
NM_033310.3
p.A244D
c.731C>A
1 paper
NM_033310.3
p.P224P
c.672C>T
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