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.M195K

c.584T>A

Surrounding Variants

1 paper

NM_002239.4

p.M195R

c.584T>G

1 paper

NM_002239.4

p.L194H

c.581T>A

1 paper

NM_002239.4

p.L194F

c.580C>T

1 paper

NM_002239.4

p.S197G

c.589A>G

1 paper

NM_002239.4

p.S197N

c.590G>A

1 paper

NM_002239.4

p.S197S

c.591C>T

1 paper

NM_002239.4

p.E198K

c.592G>A

1 paper

NM_002239.4

p.E192K

c.574G>A

2 papers

NM_002239.4

p.H199N

c.595C>A

1 paper

NM_002239.4

p.A191A

c.573C>T

1 paper

NM_002239.4

p.H199L

c.596A>T

1 paper

NM_002239.4

p.A191D

c.572C>A