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.E255D

c.765G>T

Surrounding Variants

1 paper

NM_004982.4

p.E255D

c.765G>C

1 paper

NM_004982.4

p.S256N

c.767G>A

1 paper

NM_004982.4

p.E255K

c.763G>A

1 paper

NM_004982.4

p.N257S

c.770A>G

1 paper

NM_004982.4

p.I254V

c.760A>G

1 paper

NM_004982.4

p.N252Y

c.754A>T

1 paper

NM_004982.4

p.D251E

c.753T>G

1 paper

NM_004982.4

p.D251E

c.753T>A

1 paper

NM_004982.4

p.F260L

c.778T>C

1 paper

NM_004982.4

p.F260L

c.780T>G

1 paper

NM_004982.4

p.F260L

c.780T>A

1 paper

NM_004982.4

p.L261M

c.781C>A