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.Q13H

c.39G>C

Surrounding Variants

1 paper

NM_002239.4

p.Q13H

c.39G>T

1 paper

NM_002239.4

p.V14I

c.40G>A

1 paper

NM_002239.4

p.V14L

c.40G>C

1 paper

NM_002239.4

p.V14L

c.40G>T

1 paper

NM_002239.4

p.Y12*

c.36T>A

1 paper

NM_002239.4

p.Y12*

c.36T>G

1 paper

NM_002239.4

p.Y12F

c.35A>T

1 paper

NM_002239.4

p.D11N

c.31G>A

1 paper

NM_002239.4

p.D11Y

c.31G>T

1 paper

NM_002239.4

p.D10E

c.30C>A

1 paper

NM_002239.4

p.D10E

c.30C>G

1 paper

NM_002239.4

p.T17P

c.49A>C