Varaico: Literature-Extracted Genetic Variants

KCNJ8

240 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 37–184UCSCInward rectifier potassium channel transmembrane domain

IRK_Caa 191–363UCSCInward rectifier potassium channel C-terminal domain

Gene Aliases

HGNC Name

potassium inwardly rectifying channel subfamily J member 8

HGNC Alias Symbol

Kir6.1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004982.4

p.V225L

c.673G>T

Surrounding Variants

1 paper

NM_004982.4

p.V225L

c.673G>C

1 paper

NM_004982.4

p.S224F

c.671C>T

1 paper

NM_004982.4

p.R226C

c.676C>T

2 papers

NM_004982.4

p.R226H

c.677G>A

1 paper

NM_004982.4

p.I221T

c.662T>C

1 paper

NM_004982.4

p.T234A

c.700A>G

1 paper

NM_004982.4

p.L215L

c.645G>T

1 paper

NM_004982.4

p.T234I

c.701C>T

1 paper

NM_004982.4

p.T235I

c.704C>T

1 paper

NM_004982.4

p.E237K

c.709G>A

1 paper

NM_004982.4

p.R211L

c.632G>T

1 paper

NM_004982.4

p.R211R

c.631C>A