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.T329A

c.985A>G

Surrounding Variants

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

9 papers

NM_004982.4

p.E332del1

c.994_995delTTC

1 paper

NM_004982.4

p.G333G

c.999A>T

3 papers

NM_004982.4

p.V334A

c.1001T>C

1 paper

NM_004982.4

p.R323H

c.968G>A

1 paper

NM_004982.4

p.R323C

c.967C>T

1 paper

NM_004982.4

p.S336C

c.1007C>G

1 paper

NM_004982.4

p.D338E

c.1014T>G

1 paper

NM_004982.4

p.D338E

c.1014T>A