Varaico: Literature-Extracted Genetic Variants

Gene:KCNK4
Variant:p.R379L

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.R379L
c.1136G>T
Surrounding Variants
1 paper
NM_033310.3
p.R379P
c.1136G>C
1 paper
NM_033310.3
p.V378M
c.1132G>A
1 paper
NM_033310.3
p.R381C
c.1141C>T
1 paper
NM_033310.3
p.P377L
c.1130C>T
1 paper
NM_033310.3
p.P377T
c.1129C>A
2 papers
NM_033310.3
p.G384R
c.1150G>A
2 papers
NM_033310.3
p.G384R
c.1150G>C
1 paper
NM_033310.3
p.P374R
c.1121C>G
1 paper
NM_033310.3
p.D388Y
c.1162G>T
1 paper
NM_033310.3
p.P392T
c.1174C>A
1 paper
NM_033310.3
p.V393L
c.1177G>C
1 paper
NM_033310.3
p.V393L
c.1177G>T
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