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.G109E

c.326G>A

Surrounding Variants

1 paper

NM_004982.4

p.G109R

c.325G>C

2 papers

NM_004982.4

p.G109R

c.325G>A

1 paper

NM_004982.4

p.M110L

c.328A>T

1 paper

NM_004982.4

p.M110L

c.328A>C

2 papers

NM_004982.4

p.M110T

c.329T>C

1 paper

NM_004982.4

p.M110K

c.329T>A

1 paper

NM_004982.4

p.M110I

c.330G>T

1 paper

NM_004982.4

p.M110I

c.330G>C

1 paper

NM_004982.4

p.M110I

c.330G>A

1 paper

NM_004982.4

p.E111Q

c.331G>C

1 paper

NM_004982.4

p.E111G

c.332A>G

1 paper

NM_004982.4

p.K107E

c.319A>G