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.T311I

c.932C>T

Surrounding Variants

1 paper

NM_004982.4

p.A315T

c.943G>A

1 paper

NM_004982.4

p.I318N

c.953T>A

1 paper

NM_004982.4

p.R323C

c.967C>T

1 paper

NM_004982.4

p.R323H

c.968G>A

1 paper

NM_004982.4

p.V294A

c.881T>C

2 papers

NM_004982.4

p.T329A

c.985A>G

1 paper

NM_004982.4

p.V292I

c.874G>A

2 papers

NM_004982.4

p.E331K

c.991G>A

3 papers

NM_004982.4

p.E332K

c.994G>A

1 paper

NM_004982.4

p.G333R

c.997G>C

1 paper

NM_004982.4

p.G333R

c.997G>A

1 paper

NM_004982.4

p.D289E

c.867C>G