Varaico: Literature-Extracted Genetic Variants

KCNJ9

74 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 25–164UCSCInward rectifier potassium channel transmembrane domain

IRK_Caa 171–343UCSCInward rectifier potassium channel C-terminal domain

Gene Aliases

HGNC Name

potassium inwardly rectifying channel subfamily J member 9

HGNC Alias Symbols

Kir3.3; GIRK3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_004983.3

p.R238H

c.713G>A

Surrounding Variants

1 paper

NM_004983.3

p.F232F

c.696C>T

1 paper

NM_004983.3

p.E250D

c.750G>C

1 paper

NM_004983.3

p.E250D

c.750G>T

1 paper

NM_004983.3

p.D252E

c.756C>A

1 paper

NM_004983.3

p.D252E

c.756C>G

1 paper

NM_004983.3

p.H224Y

c.670C>T

1 paper

NM_004983.3

p.A253T

c.757G>A

1 paper

NM_004983.3

p.E217E

c.651G>A

1 paper

NM_004983.3

p.T215T

c.645G>A

1 paper

NM_004983.3

p.R211P

c.632G>C

1 paper

NM_004983.3

p.R211L

c.632G>T

1 paper

NM_004983.3

p.R206H

c.617G>A