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.R483G

c.1447A>G

Surrounding Variants

1 paper

NM_002239.4

p.M484V

c.1450A>G

1 paper

NM_002239.4

p.A482T

c.1444G>A

1 paper

NM_002239.4

p.A481E

c.1442C>A

1 paper

NM_002239.4

p.G480V

c.1439G>T

1 paper

NM_002239.4

p.G486R

c.1456G>A

1 paper

NM_002239.4

p.G486R

c.1456G>C

1 paper

NM_002239.4

p.N487K

c.1461C>A

1 paper

NM_002239.4

p.N487K

c.1461C>G

1 paper

NM_002239.4

p.L488I

c.1462C>A

1 paper

NM_002239.4

p.L488F

c.1462C>T

1 paper

NM_002239.4

p.A478S

c.1432G>T

1 paper

NM_002239.4

p.M477I

c.1431G>A