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

2 papers

NM_002239.4

p.H116Q

c.348C>A

Surrounding Variants

2 papers

NM_002239.4

p.H116Q

c.348C>G

1 paper

NM_002239.4

p.V117F

c.349G>T

1 paper

NM_002239.4

p.V117V

c.351C>G

2 papers

NM_002239.4

p.N119D

c.355A>G

1 paper

NM_002239.4

p.N113S

c.338A>G

1 paper

NM_002239.4

p.T121M

c.362C>T

1 paper

NM_002239.4

p.D111E

c.333C>A

1 paper

NM_002239.4

p.D111E

c.333C>G

1 paper

NM_002239.4

p.D111N

c.331G>A

1 paper

NM_002239.4

p.V124M

c.370G>A

1 paper

NM_002239.4

p.R109W

c.325C>T

1 paper

NM_002239.4

p.T108A

c.322A>G