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.V127G

c.380T>G

Surrounding Variants

1 paper

NM_002239.4

p.V127L

c.379G>C

1 paper

NM_002239.4

p.Y128C

c.383A>G

1 paper

NM_002239.4

p.V124M

c.370G>A

1 paper

NM_002239.4

p.S132T

c.394T>A

1 paper

NM_002239.4

p.S132Y

c.395C>A

1 paper

NM_002239.4

p.T121M

c.362C>T

1 paper

NM_002239.4

p.L135I

c.403C>A

1 paper

NM_002239.4

p.L135_F136del1

c.404_406delTCT

2 papers

NM_002239.4

p.N119D

c.355A>G

1 paper

NM_002239.4

p.F136L

c.406T>C

1 paper

NM_002239.4

p.F136L

c.408C>A

1 paper

NM_002239.4

p.F136L

c.408C>G