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.M98T

c.293T>C

Surrounding Variants

1 paper

NM_002239.4

p.A99G

c.296C>G

1 paper

NM_002239.4

p.A99V

c.296C>T

1 paper

NM_002239.4

p.F97I

c.289T>A

1 paper

NM_002239.4

p.M101I

c.303G>C

1 paper

NM_002239.4

p.W102insFs

c.304_305insA

1 paper

NM_002239.4

p.W102insFs

c.304_305insAA

1 paper

NM_002239.4

p.A94T

c.280G>A

1 paper

NM_002239.4

p.V93E

c.278T>A

1 paper

NM_002239.4

p.V93G

c.278T>G

2 papers

NM_002239.4

p.V93L

c.277G>C

1 paper

NM_002239.4

p.W103C

c.309G>C

2 papers

NM_002239.4

p.V93L

c.277G>T