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.D206N

c.616G>A

Surrounding Variants

2 papers

NM_002239.4

p.G207R

c.619G>A

2 papers

NM_002239.4

p.G207R

c.619G>C

1 paper

NM_002239.4

p.G207V

c.620G>T

1 paper

NM_002239.4

p.M204V

c.610A>G

1 paper

NM_002239.4

p.S203F

c.608C>T

1 paper

NM_002239.4

p.I202V

c.604A>G

1 paper

NM_002239.4

p.T210M

c.629C>T

1 paper

NM_002239.4

p.A200V

c.599C>T

1 paper

NM_002239.4

p.A200S

c.598G>T

1 paper

NM_002239.4

p.H199L

c.596A>T

2 papers

NM_002239.4

p.H199N

c.595C>A

1 paper

NM_002239.4

p.R214W

c.640C>T