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

2 papers

NM_004982.4

p.I398M

c.1194C>G

Surrounding Variants

1 paper

NM_004982.4

p.R399L

c.1196G>T

1 paper

NM_004982.4

p.R399Q

c.1196G>A

1 paper

NM_004982.4

p.S397A

c.1189T>G

1 paper

NM_004982.4

p.N401K

c.1203C>G

1 paper

NM_004982.4

p.N401K

c.1203C>A

1 paper

NM_004982.4

p.R394S

c.1182G>T

1 paper

NM_004982.4

p.R394S

c.1182G>C

1 paper

NM_004982.4

p.S403A

c.1207T>G

1 paper

NM_004982.4

p.S403C

c.1208C>G

1 paper

NM_004982.4

p.S404A

c.1210T>G

1 paper

NM_004982.4

p.M392I

c.1176G>T

1 paper

NM_004982.4

p.M392I

c.1176G>C