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.C388S

c.1163G>C

Surrounding Variants

1 paper

NM_002239.4

p.C388S

c.1162T>A

1 paper

NM_002239.4

p.D390E

c.1170T>A

1 paper

NM_002239.4

p.D390E

c.1170T>G

1 paper

NM_002239.4

p.S385Y

c.1154C>A

2 papers

NM_002239.4

p.S385A

c.1153T>G

1 paper

NM_002239.4

p.N384I

c.1151A>T

1 paper

NM_002239.4

p.D393N

c.1177G>A

1 paper

NM_002239.4

p.D393Y

c.1177G>T

2 papers

NM_002239.4

p.D393E

c.1179T>A

2 papers

NM_002239.4

p.D393E

c.1179T>G

1 paper

NM_002239.4

p.R382S

c.1146A>C

1 paper

NM_002239.4

p.R382S

c.1146A>T