Varaico: Literature-Extracted Genetic Variants

KCNJ3

266 papers

RefSeq Summary

Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rec...

Pfam Domains

IRKaa 47–187UCSCInward rectifier potassium channel transmembrane domain

IRK_Caa 194–366UCSCInward rectifier potassium channel C-terminal domain

Gene Aliases

HGNC Name

potassium inwardly rectifying channel subfamily J member 3

HGNC Alias Symbols

Kir3.1; GIRK1; KGA

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002239.4

p.P400Q

c.1199C>A

Surrounding Variants

1 paper

NM_002239.4

p.S401T

c.1201T>A

1 paper

NM_002239.4

p.S401A

c.1201T>G

1 paper

NM_002239.4

p.L399Q

c.1196T>A

1 paper

NM_002239.4

p.K398R

c.1193A>G

1 paper

NM_002239.4

p.K402N

c.1206G>C

1 paper

NM_002239.4

p.K402N

c.1206G>T

1 paper

NM_002239.4

p.T397K

c.1190C>A

1 paper

NM_002239.4

p.T397I

c.1190C>T

1 paper

NM_002239.4

p.T397A

c.1189A>G

1 paper

NM_002239.4

p.Q404_I406del3

c.1210_1217del9

1 paper

NM_002239.4

p.Q404H

c.1212G>C

1 paper

NM_002239.4

p.Q404H

c.1212G>T