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

1–12 of 209 variants

87 papers

NM_004982.4

p.S422L

c.1265C>T

31 papers

NM_004982.4

p.V65M

c.193G>A

11 papers

NM_004982.4

p.C176S

c.526T>A

11 papers

NM_004982.4

p.C176S

c.527G>C

10 papers

NM_004982.4

p.V346I

c.1036G>A

9 papers

NM_004982.4

p.E332del1

c.994_995delTTC

6 papers

NM_004982.4

p.G343D

c.1028G>A

5 papers

NM_004982.4

p.Q53R

c.158A>G

5 papers

NM_004982.4

p.A88G

c.263C>G

5 papers

NM_004982.4

p.E189K

c.565G>A

3 papers

NM_004982.4

p.E332K

c.994G>A

3 papers

NM_004982.4

p.V334A

c.1001T>C