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.D469E

c.1407T>A

Surrounding Variants

1 paper

NM_002239.4

p.D469E

c.1407T>G

1 paper

NM_002239.4

p.D469A

c.1406A>C

1 paper

NM_002239.4

p.D469N

c.1405G>A

1 paper

NM_002239.4

p.P472S

c.1414C>T

1 paper

NM_002239.4

p.P472Q

c.1415C>A

2 papers

NM_002239.4

p.L474P

c.1421T>C

1 paper

NM_002239.4

p.S464G

c.1390A>G

1 paper

NM_002239.4

p.K476E

c.1426A>G

1 paper

NM_002239.4

p.M463K

c.1388T>A

1 paper

NM_002239.4

p.M463V

c.1387A>G

1 paper

NM_002239.4

p.P462L

c.1385C>T

1 paper

NM_002239.4

p.M477I

c.1431G>A