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.R52L

c.155G>T

Surrounding Variants

1 paper

NM_002239.4

p.C53S

c.157T>A

1 paper

NM_002239.4

p.C53G

c.157T>G

1 paper

NM_002239.4

p.G51D

c.152G>A

1 paper

NM_002239.4

p.C53Y

c.158G>A

1 paper

NM_002239.4

p.C53S

c.158G>C

1 paper

NM_002239.4

p.V55L

c.163G>C

1 paper

NM_002239.4

p.V55L

c.163G>T

1 paper

NM_002239.4

p.Q56K

c.166C>A

1 paper

NM_002239.4

p.D48V

c.143A>T

2 papers

NM_002239.4

p.H57H

c.171C>T

1 paper

NM_002239.4

p.F46L

c.138C>A

1 paper

NM_002239.4

p.F46L

c.138C>G