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.S368*

c.1103C>A

Surrounding Variants

1 paper

NM_002239.4

p.S368L

c.1103C>T

1 paper

NM_002239.4

p.S369P

c.1105T>C

1 paper

NM_002239.4

p.M367T

c.1100T>C

1 paper

NM_002239.4

p.L366P

c.1097T>C

1 paper

NM_002239.4

p.L366I

c.1096C>A

1 paper

NM_002239.4

p.L365F

c.1093C>T

1 paper

NM_002239.4

p.I372L

c.1114A>C

1 paper

NM_002239.4

p.I372L

c.1114A>T

1 paper

NM_002239.4

p.I372K

c.1115T>A

1 paper

NM_002239.4

p.I372M

c.1116A>G

1 paper

NM_002239.4

p.A373E

c.1118C>A

1 paper

NM_002239.4

p.A375D

c.1124C>A