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.D32N

c.94G>A

Surrounding Variants

1 paper

NM_002239.4

p.Q31L

c.92A>T

1 paper

NM_002239.4

p.D32E

c.96C>A

1 paper

NM_002239.4

p.D32E

c.96C>G

1 paper

NM_002239.4

p.P33A

c.97C>G

1 paper

NM_002239.4

p.Q34E

c.100C>G

1 paper

NM_002239.4

p.Q34*

c.100C>T

1 paper

NM_002239.4

p.P29L

c.86C>T

1 paper

NM_002239.4

p.Q35L

c.104A>T

1 paper

NM_002239.4

p.G28E

c.83G>A

1 paper

NM_002239.4

p.Q35H

c.105G>C

1 paper

NM_002239.4

p.Q35H

c.105G>T

1 paper

NM_002239.4

p.G28R

c.82G>A