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.E157D

c.471G>C

Surrounding Variants

1 paper

NM_002239.4

p.E157D

c.471G>T

2 papers

NM_002239.4

p.G158S

c.472G>A

1 paper

NM_002239.4

p.G158A

c.473G>C

1 paper

NM_002239.4

p.P156H

c.467C>A

1 paper

NM_002239.4

p.C155Y

c.464G>A

1 paper

NM_002239.4

p.I160T

c.479T>C

1 paper

NM_002239.4

p.K154R

c.461A>G

1 paper

NM_002239.4

p.D153delFs

c.458delA

1 paper

NM_002239.4

p.D153fs

c.457_458fs

1 paper

NM_002239.4

p.I151N

c.452T>A

1 paper

NM_002239.4

p.I151V

c.451A>G

1 paper

NM_002239.4

p.F164Y

c.491T>A