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.D77G

c.230A>G

Surrounding Variants

1 paper

NM_002239.4

p.D77E

c.231C>A

1 paper

NM_002239.4

p.D77E

c.231C>G

1 paper

NM_002239.4

p.K79Q

c.235A>C

1 paper

NM_002239.4

p.K79E

c.235A>G

1 paper

NM_002239.4

p.T74A

c.220A>G

1 paper

NM_002239.4

p.F72F

c.216C>T

1 paper

NM_002239.4

p.W82R

c.244T>A

1 paper

NM_002239.4

p.W82R

c.244T>C

6 papers

NM_002239.4

p.N83H

c.247A>C

1 paper

NM_002239.4

p.D70N

c.208G>A

1 paper

NM_002239.4

p.D70Y

c.208G>T

1 paper

NM_002239.4

p.F85L

c.253T>C