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.R499H

c.1496G>A

Surrounding Variants

2 papers

NM_002239.4

p.R499L

c.1496G>T

2 papers

NM_002239.4

p.R499C

c.1495C>T

3 papers

NM_002239.4

p.D498D

c.1494T>C

1 paper

NM_002239.4

p.S497Y

c.1490C>A

1 paper

NM_002239.4

p.T501K

c.1502C>A

3 papers

NM_002239.4

p.N496H

c.1486A>C

1 paper

NM_002239.4

p.M495K

c.1484T>A

1 paper

NM_002239.4

p.L492fs

c.1474_1475fs

1 paper

NM_002239.4

p.L488I

c.1462C>A

1 paper

NM_002239.4

p.L488F

c.1462C>T

1 paper

NM_002239.4

p.N487K

c.1461C>A

1 paper

NM_002239.4

p.N487K

c.1461C>G