Varaico: Literature-Extracted Genetic Variants

Gene:KCNK4
Variant:p.G139R

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
2 papers
NM_033310.3
p.G139R
c.415G>C
Surrounding Variants
2 papers
NM_033310.3
p.G139R
c.415G>A
2 papers
NM_033310.3
p.G139E
c.416G>A
1 paper
NM_033310.3
p.G137V
c.410G>T
1 paper
NM_033310.3
p.R141W
c.421C>T
1 paper
NM_033310.3
p.L135P
c.404T>C
1 paper
NM_033310.3
p.L135V
c.403C>G
1 paper
NM_033310.3
p.L134I
c.400C>A
1 paper
NM_033310.3
p.L146P
c.437T>C
1 paper
NM_033310.3
p.R147S
c.439C>A
1 paper
NM_033310.3
p.R147C
c.439C>T
1 paper
NM_033310.3
p.R147H
c.440G>A
1 paper
NM_033310.3
p.L130M
c.388C>A
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