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.R70H

c.209G>A

Surrounding Variants

1 paper

NM_004982.4

p.T72M

c.215C>T

1 paper

NM_004982.4

p.D66N

c.196G>A

1 paper

NM_004982.4

p.V65E

c.194T>A

1 paper

NM_004982.4

p.V65L

c.193G>T

1 paper

NM_004982.4

p.V65L

c.193G>C

31 papers

NM_004982.4

p.V65M

c.193G>A

1 paper

NM_004982.4

p.C82S

c.245G>C

1 paper

NM_004982.4

p.L86H

c.257T>A

5 papers

NM_004982.4

p.Q53R

c.158A>G

1 paper

NM_004982.4

p.A88T

c.262G>A

5 papers

NM_004982.4

p.A88G

c.263C>G

1 paper

NM_004982.4

p.W91R

c.271T>C