Varaico: Literature-Extracted Genetic Variants

Gene:KCNK4
Variant:p.L344M

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.L344M
c.1030C>A
Surrounding Variants
1 paper
NM_033310.3
p.I347V
c.1039A>G
1 paper
NM_033310.3
p.D348N
c.1042G>A
1 paper
NM_033310.3
p.D348H
c.1042G>C
1 paper
NM_033310.3
p.T353M
c.1058C>T
1 paper
NM_033310.3
p.P332T
c.994C>A
2 papers
NM_033310.3
p.E356K
c.1066G>A
1 paper
NM_033310.3
p.G358R
c.1072G>C
1 paper
NM_033310.3
p.C359R
c.1075T>C
1 paper
NM_033310.3
p.P328L
c.983C>T
1 paper
NM_033310.3
p.P360S
c.1078C>T
1 paper
NM_033310.3
p.Q327*
c.979C>T
1 paper
NM_033310.3
p.P362L
c.1085C>T
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