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.A286V

c.857C>T

Surrounding Variants

1 paper

NM_004982.4

p.D284E

c.852C>G

1 paper

NM_004982.4

p.D284E

c.852C>A

1 paper

NM_004982.4

p.T283I

c.848C>T

1 paper

NM_004982.4

p.D289E

c.867C>G

1 paper

NM_004982.4

p.D289E

c.867C>A

1 paper

NM_004982.4

p.V292I

c.874G>A

1 paper

NM_004982.4

p.V294A

c.881T>C

2 papers

NM_004982.4

p.R274H

c.821G>A

1 paper

NM_004982.4

p.R274C

c.820C>T

1 paper

NM_004982.4

p.V270M

c.808G>A

1 paper

NM_004982.4

p.I266T

c.797T>C

1 paper

NM_004982.4

p.T311I

c.932C>T