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.L430F

c.1290G>T

Surrounding Variants

1 paper

NM_002239.4

p.L430F

c.1290G>C

1 paper

NM_002239.4

p.G431R

c.1291G>A

1 paper

NM_002239.4

p.G431R

c.1291G>C

1 paper

NM_002239.4

p.G431fs

c.1291_1292fs

1 paper

NM_002239.4

p.L430S

c.1289T>C

1 paper

NM_002239.4

p.G431E

c.1292G>A

1 paper

NM_002239.4

p.G431A

c.1292G>C

1 paper

NM_002239.4

p.L430V

c.1288T>G

1 paper

NM_002239.4

p.D432N

c.1294G>A

1 paper

NM_002239.4

p.S429C

c.1285A>T

1 paper

NM_002239.4

p.Y428C

c.1283A>G

1 paper

NM_002239.4

p.L433M

c.1297T>A