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.M386K

c.1157T>A

Surrounding Variants

1 paper

NM_004982.4

p.M386I

c.1158G>T

1 paper

NM_004982.4

p.M386I

c.1158G>C

1 paper

NM_004982.4

p.M386I

c.1158G>A

1 paper

NM_004982.4

p.R387K

c.1160G>A

1 paper

NM_004982.4

p.S385C

c.1154C>G

1 paper

NM_004982.4

p.S385A

c.1153T>G

2 papers

NM_004982.4

p.R383H

c.1148G>A

1 paper

NM_004982.4

p.N389S

c.1166A>G

2 papers

NM_004982.4

p.K382R

c.1145A>G

1 paper

NM_004982.4

p.S391A

c.1171T>G

1 paper

NM_004982.4

p.M392I

c.1176G>T

1 paper

NM_004982.4

p.M392I

c.1176G>C