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

11 papers

NM_004982.4

p.C176S

c.527G>C

Surrounding Variants

1 paper

NM_004982.4

p.C176F

c.527G>T

1 paper

NM_004982.4

p.C176Y

c.527G>A

11 papers

NM_004982.4

p.C176S

c.526T>A

1 paper

NM_004982.4

p.L174F

c.522A>T

1 paper

NM_004982.4

p.L174F

c.522A>C

1 paper

NM_004982.4

p.L174V

c.520T>G

1 paper

NM_004982.4

p.T181I

c.542C>T

1 paper

NM_004982.4

p.A171V

c.512C>T

1 paper

NM_004982.4

p.G166A

c.497G>C

1 paper

NM_004982.4

p.G166S

c.496G>A

1 paper

NM_004982.4

p.V165A

c.494T>C

5 papers

NM_004982.4

p.E189K

c.565G>A