Varaico: Literature-Extracted Genetic Variants

KCNJ4

101 papers

RefSeq Summary

Several different potassium channels are known to be involved with electrical signaling in the nervous system. One class is activated by depolarization whereas a second class is not. The latter are re...

Pfam Domains

IRKaa 22–178UCSCInward rectifier potassium channel transmembrane domain

IRK_Caa 185–358UCSCInward rectifier potassium channel C-terminal domain

Gene Aliases

HGNC Name

potassium inwardly rectifying channel subfamily J member 4

HGNC Alias Symbols

Kir2.3; HIR; HRK1; hIRK2; IRK3

Papers

RefSeq ID

Protein change

DNA change

1–12 of 210 variants

8 papers

NM_152868.3

p.I214L

c.640A>C

3 papers

NM_152868.3

p.N34H

c.100A>C

3 papers

NM_152868.3

p.R220Q

c.659G>A

3 papers

NM_152868.3

p.A394V

c.1181C>T

2 papers

NM_152868.3

p.H2H

c.6C>T

2 papers

NM_152868.3

p.V142M

c.424G>A

2 papers

NM_152868.3

p.E216A

c.647A>C

2 papers

NM_152868.3

p.D247A

c.740A>C

2 papers

NM_152868.3

p.D251A

c.752A>C

2 papers

NM_152868.3

p.E291A

c.872A>C

2 papers

NM_152868.3

p.R427H

c.1280G>A

1 paper

NM_152868.3

p.R6G

c.16C>G