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

7 papers

NM_002239.4

p.N217D

c.649A>G

Surrounding Variants

1 paper

NM_002239.4

p.N217S

c.650A>G

1 paper

NM_002239.4

p.V215E

c.644T>A

2 papers

NM_002239.4

p.R219H

c.656G>A

2 papers

NM_002239.4

p.N220D

c.658A>G

1 paper

NM_002239.4

p.R214W

c.640C>T

1 paper

NM_002239.4

p.H222R

c.665A>G

1 paper

NM_002239.4

p.T210M

c.629C>T

1 paper

NM_002239.4

p.M223I

c.669G>A

1 paper

NM_002239.4

p.M223I

c.669G>C

1 paper

NM_002239.4

p.M223I

c.669G>T

1 paper

NM_002239.4

p.S225F

c.674C>T

1 paper

NM_002239.4

p.A226T

c.676G>A